KUMC Genetics Activity


As an ACCME accredited provider of continuing medical education, Clinical Tools, Inc.complies with the Standards for Commercial Support issued by the ACCME and requires disclosure of and resolution of any conflicts of interest for those in control of content.
Clinical Tools, MD, MD (Company, CTI)Clinical Tools, Inc. (CTI) is a small, physician-run business dedicated to harnessing the potential of the Internet to create scalable, usable, and broadly available tools to improve the ability of physicians and other health care providers to care for patients. We achieve this goal by providing education and training to students and professionals and creating Web-based support tools for clinicians, researchers, and consumers. Information technology can and should serve as a stable framework that supports researchers and clinicians in their roles. We provide dissemination and management tools that empower clinicians and consumers to understand and control the vast amount of information related to making individual health choices. We serve our clients creatively, effectively, and with the highest quality of service.
Disclosure: Has disclosed no relevant financial relationships.
Lisa Tuttle, MS, CGC (Genetics Writer, Freelance )Lisa Tuttle is a board-certified genetic counselor and works as a freelance genetics writer. She contributes content to and reviews Clinical Tools' online genetics continuing education courses for primary care physicians. Ms. Tuttle earned a bachelor's degree in biological sciences at Cornell University in 1995. She then earned a master's degree in genetic counseling from Brandeis University in 1997. She was certified by the American Board of Genetic Counseling in 1999. Prior to writing for Clinical Tools, Ms. Tuttle was a content writer for DNA Sciences, in partnership with WebMD. She was also the primary writer on several projects, including a website and brochure, for the Lysosomal Disease Center at the University of California at San Francisco. Ms. Tuttle also worked for three years as a clinical genetic counselor at a large, comprehensive genetics center in San Jose, California.
Disclosure: Has disclosed no relevant financial relationships.
Susan Schmerler, MS, CGC, JD (Genetic Counselor, St. Joseph's Regional Medical)Susan Schmerler wears several professional hats. Since 1974, she has worked in New Jersey as a genetic counselor and now supervises the section of genetics in her hospital. As an active member of NSGC, Ms. Schmerler took part in the development of the professional's Code of Ethics. In order to prepare for this responsibility, she attended the Bioethics Course at the Kennedy Institute and took a Humanities Fellowship. She is a member of her hospital's Ethics Committee. Concerned about the impact of the rapid advances and commercialization of genetics on individual rights, Ms. Schmerler earned a law degree in 1995. She teaches risk management and ethics to medical professionals.
Disclosure: Has disclosed no relevant financial relationships.


Lisa L Hall, PhD (Assistant Professor , University of Massachusetts Medical School)Dr. Hall is an Assistant Professor at the University of Massachusetts Medical School where she is the
Assistant Director for the Human Genetics course. Dr. Hall received her undergraduate degree in
Biology from Colorado College and her PhD in Genetics from the University of California-Davis. Dr.
Hall has worked on the ELSI project with Clinical Tools since 2004. Dr. Hall aided in the needs
analysis conducted with the Association of Professors of Human or Medical Genetics (APHMG)
membership regarding content and general interest in an online genetics course. She also helped
develop ideas about format and content of the online courses and helped to review the APHMG
Needs Assessment drafts and Case Plans. She is currently evaluating the individual ELSI online
courses created by Clinical Tools and assessing their compatibility with the curriculum at the
University of Massachusetts Medical School.
Disclosure: Has disclosed no relevant financial relationships.
Robert Best, PhD (Professor, Department of Obstetrics and Gynecology , University of South Carolina School of Medicine)After receiving a bachelor of science in biochemistry from Lehigh University, Bethlehem, Pennsylvania, Dr. Robert Best earned a master of science in toxicology and a Ph.D. in genetics and toxicology from North Carolina State University, Raleigh, North Carolina. Dr. Best initially came to the University of South Carolina School of Medicine in 1986 to pursue a fellowship in clinical cytogenetics and medical genetics, and to serve as Director of the MSAFP Screening Program. He joined the Department of Obstetrics and Gynecology faculty in 1987, becoming Director of the Division of Clinical Genetics in 1991. Board certified in clinical cytogenetics and medical genetics, he has special interests in prenatal diagnosis, screening during pregnancy and molecular cytogenetics. Dr. Best is involved in evaluating the content and assessment instruments used in the ELSI modules
Disclosure: Has disclosed no relevant financial relationships.
Cynthia Powell, MD (Associate Professor, Department of Pediatrics, University of North Carolina at Chapel Hill, School of Medicine)Dr. Powell received her medical degree from the Medical College of Virginia (Virginia Commonwealth University) in 1987 and in 1990 completed her pediatric residency at Children's National Medical Center in Washington, DC where she also did a fellowship in Medical Genetics in a combined program with the National Institutes of Health from 1990-1993. She is Board Certified in Pediatrics, Clinical Genetics and Cytogenetics and also in Genetic Counseling, having obtained her MS at Sarah Lawrence College and working for several years as a genetic counselor prior to entering medical school. In 1993, Dr. Powell joined the faculty of the University of North Carolina School of Medicine, Department of Pediatrics and became Chief of the Division of Genetics and Metabolism in 2004. She is an Associate Professor of Pediatrics and Genetics. She spends most of her time in patient care and teaching and is Director of the Medical Genetics Residency Program at UNC and also Medical Director of the Cytogenetics Laboratory at UNC Hospitals. Her clinical and research interests include cytogenetics, dysmorphology and the genetics of hearing loss. She currently has a grant from the CDC and AAMC to study genetic services for patients with hearing loss.
Disclosure: Has disclosed no relevant financial relationships.
Ruthann Pfau, PhD (Genetic Counselor, Wright State University)Ruthann Blough Pfau is a practicing genetic counselor and a clinical cytogeneticist. She has a background in biological sciences with a bachelor of science and a master of science from Wright State University and a PhD in medical and molecular genetics from Indiana University. After a fellowship in clinical cytogenetics from the Children's Hospital Research Foundation in Cincinnati, Ruthann became a regular instructor for the Genetics Summer Institute for Nursing Educators at University of Cincinnati. She has previously worked to develop distance-learning CME courses and educational modules for nurses with the Genetics Program for Nursing Faculty at Cincinnati Children's Hospital. She currently and teaches Human Genetics for Health Professionals at Wright State University.
Disclosure: Has disclosed no relevant financial relationships.
Brian Caveney, MD (Fellow, Occupational and Environmental Medicine, Duke University Medical Center)Dr. Caveney is currently a fellow in Occupational and Environmental Medicine at Duke University Medical Center. He also holds a law degree and just received his master's degree in public health with a concentration in health policy and administration from the University of North Carolina. He is interested in population-based preventive health care promotion programs including cost-effective screening protocols.
Disclosure: Has disclosed no relevant financial relationships.
Jennifer Farrior, MS, MS (Genetic Counselor, Freelance)Ms. Farrior is a board-certified genetic counselor. She earned a Master of Science degree in Biochemistry and Biophysics from the University of North Carolina and a Master of Science degree in Medical Genetics from Indiana University. She joined the Clinical Tools staff in April 2003. As Project Leader, she was primarily responsible for project management, curriculum development, and content development for online genetics education courses.
Disclosure: Has disclosed no relevant financial relationships.
Peter Curtis, MD (Clinical Professor of Family Medicine, University of North Carolina School of Medicine)Dr. Curtis is a family practitioner at the University of North Carolina, and he also serves as Principal Investigator of a $1.6 million National Center for Complementary and Alternative Medicine (NCCAM) grant titled, "Integrating CAM into Health-Professions Education in NC." The project proposes to accelerate the integration of CAM education into health-professions curricula, selected medical residency programs, and continuing education.
Disclosure: Has disclosed no relevant financial relationships.
Mary Kay Pelias, PhD, JDDr. Pelias is a lifelong resident of New Orleans, Louisiana. Her educational background includes undergraduate and graduate degrees in biology from Tulane University and a law degree from Loyola University. As part of her undergraduate training, Dr. Pelias studied at the Eberhard-Karls University in Tübingen, Germany, during which time she began her studies of the eugenics movement and the issues related to human experimentation and informed consent. These interests have persisted through graduate work in genetics and in the law as it relates to personal privacy and autonomy. Since 1976, Dr. Pelias has taught human and medical genetics and bioethics to graduate students and medical students at the Louisiana State University Health Sciences Center (LSUHSC). In 1996-1997, Dr. Pelias was awarded a sabbatical leave, supported by the American Association for the Advancement of Science, the American Society of Human Genetics, the US Department of Energy, and the LSUHSC. She served as a Congressional Fellow in the office of Senator Pete V. Domenici (R-NM), where she drafted and promoted federal legislation on genetic confidentiality and nondiscrimination. Dr. Pelias' scientific research interests have included a 23-year study of the genetics of deaf-blindness in southern Louisiana, as well as studies of breast cancer, metabolic diseases, and isolated hereditary syndromes. Her legal research includes interests in the physician-patient relationship, informed consent and disclosure, and genetics and geneticists in contemporary society. Dr. Pelias served on the Institutional Review Boards of the LSUHSC and the Louisiana Department of Health and Hospitals as well as on 2 legislative task forces that addressed questions of legislation on the assisted reproductive technologies and on a statewide birth defects registry. With respect to national professional organizations, Dr. Pelias was active for many years in the federal programs of the Council of Regional Networks for Genetics Services, particularly in the area of informed consent for newborn screening. She presently serves as chair of the Social Issues Committee of the American Society of Human Genetics and chair of the Social, Ethical, and Legal Issues Committee of the American College of Medical Genetics. More recently, she was chair of the Working Group on Genetics of the National Human Research Protections Advisory Committee, Office for Human Research Protections, of the US Department of Health and Human Services. In 2003, Dr. Pelias retired as Professor Emerita from her faculty position at the LSUHSC. She presently consults through her own business, GenELSI Consulting, Inc.
Disclosure: Has disclosed no relevant financial relationships.
Cecile Skryznia, MS, CGC (Assistant Professor, Genetic Counselor, University of North Carolina at Chapel Hill)Ms. Skrzynia is a board-certified genetic counselor specializing in cancer genetics. She is a member of the National Society of Genetic Counselors and the American Society of Human Genetics; she is also an associate member of the Lineberger Comprehensive Cancer Center in Chapel Hill, North Carolina.
Disclosure: Has disclosed no relevant financial relationships.
Denise Finneran Needham, MS, CGC (Genetic Counselor, Independent)Ms. Needham is a board-certified genetic counselor who worked at Clinical Tools from August 2003 until June 2005. She was responsible for managing and contributing content to online genetics education courses for both medical students and primary care physicians.
Disclosure: Has disclosed no relevant financial relationships.
Anthony Viera, ASN (Physician, Private Practice)Dr. Viera is a practicing family physician, holding his medical degree from the Medical University of South Carolina. He completed internship and residency at the Naval Hospital in Jacksonville, FL. In addition to teaching, his research interests include patient education related to hypertension. He is a second year Clinical Scholar in the Robert Wood Johnson Clinical Scholars Program at UNC-CH.
Disclosure: Has disclosed no relevant financial relationships.

Audience and Accreditation


Medical students and residents

A letter of completion for up to 10 hour(s) is available for non-physicians.
A score of 70% on the post-test is required to complete the activity.


Goal: To teach medical students about the ethical, legal and social issues related to genetics, especially genetic testing and counseling.

Professional Practice GapsThe National Human Genome Research Institute (NHGRI) and the National Coalition for Health Professional Education in Genetics (NCHPEG) have highlighted the need for more education about the ethical, legal and social implications (ELSI) related to genetic testing and counseling.
This activity is designed to change: Competence, Performance.

Educational Objectives:

After completing this activity participants will be able to:
  • Recognize the indications for a diagnostic genetics evaluation and the profound impact a genetic diagnosis can have on the family.

  • Recognize that most human disease is the result of complex interactions between genetics and environment and determine the relative contribution of these factors to define occurrence likelihoods and appropriate preventative measures.

  • Facilitate the safe and responsible participation of their patients in clinical research, understanding the relationship between basic science, biomedical research and clinical application as it pertains to medical genetics.

Modules in this Training Activity

  • Genetics in Pediatrics: A Family Study of a Child With Multiple Congenital Anomalies

  • Genetics: Complex Inheritance: Genetics of Common Complex Disorders

  • Genetic Services and the Primary Care Provider

  • Genetics: The Medical Family History

  • Genetics: Introduction to Genetic Counseling

  • Genetic Testing in Clinical Practice

  • Genetics: Ethical and Legal Considerations in Genetic Testing

  • Genetics: Etiology of Sporadic and Hereditary Cancers

  • Genetics: Hereditary Breast and Ovarian Cancer Syndrome: Genetic Testing and Counseling

  • Genetics: Mini-Review of the Molecular Genetics of BRCA1/BRCA2

Practice Gap References:

Association of Professors of Human and Medical Genetics, American Society of Human Genetics. Medical school core curriculum in genetics. ASHG Website. December 2001. Available at: http://www.ashg.org/pdf/Medical%20School%20Core%20Curriculum%20in%20Genetics.pdf Accessed on: 2004-06-15.
Core competencies in genetics essential for all health-care professionals. National Coalition for Health Professional Education in Genetics. 2000. Available at: http://www.nchpeg.org/ Accessed on: 2004-09-21.

Review Dates

Content Review:Editorial Review:
Thu, 9/17/2015Thu, 9/17/2015

Participation Requirements

Activity Credit: Obtaining credit for participation in this activity requires that you complete the pre-assessments, work through the modules (including all in-module interactive activities), complete the post-assessments with a 70% score on the post-test, and then request credit. At the end of the activity, you will be instructed on how to print out a certificate for your records.

Time Requirement: Keep track of the amount of time it takes you to complete this activity. You will be required to spend a set amount of time in order to claim credit. You should claim credit only for the time actually spent in the activity.

Technical Requirement: To participate in this activity, you will need a computer, an Internet connection, and a Web browser. This activity requires Chrome, Firefox, and IE7 or higher.

FundingInitial development of this activity was supported by a grant from the National Human Genome Research Institute (#R25-HG02266), a grant from the National Heart, Lung, and Blood Institute (#R44-CA86720).
Training Activity References:
. . ACMGF. 1999. Accessed on: 2015-09-15.
A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res. 1996; 56: 3409-3414.
A genetic model for colorectal tumorigenesis. Cell. 1990; 61: 759-767.
A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999; 341: 718-724.
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Gent. 1996; 13: 117-119.
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994; 266: 66-71.
ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W, eds. Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford, England: Oxford University Press. Cited by: Office of Genomics and Disease Prevention. Evaluation of genetic testing. ACCE: a CDC-sponsored project carried out by the Foundation for Blood Research. 2003. Available at: http://www.cdc.gov/genomics/gtesting/ACCE/ Accessed on: 2005-09-20.
ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007; 109: 217-27. Available at: http://www.ncbi.nlm.nih.gov/pubmed/17197615 Accessed on: 2014-09-10.
ACOG committee opinion number 298. Committee on Genetics. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2004; 104(2): 425-428.
Age at onset and life table risks in genetic counseling for Huntington's disease. J Med Genet. 1992; 29: 239-242.
American Society of Clinical Oncology. Hereditary Breast and Ovarian Cancer. Cancer.net. 2014. Available at: http://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer Accessed on: 2014-09-17.
Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, Risch HA, Eyfjord JE, Hopper JL, Southey MC, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tryggvadottir L, Syrjakoski K, Kallioniemi OP, Eerola H, Nevanlinna H, Pharoah PD, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008; 98: 1457-66. Available at: http://www.ncbi.nlm.nih.gov/pubmed/18349832 Accessed on: 2014-09-20.
Antoniou AC, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, Olsson H, Johannsson O, Borg Å, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulininus H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet. 2005; 2004: . Available at: http://jmg.bmj.com/content/42/7/602.short Accessed on: 2014-09-18.
Arver B, Haegermark A, Platten U, Lindblom A, Brandberg Y. Evaluation of Psychosocial Effects of Pre-Symptomatic Testing for Breast/Ovarian and Colon Cancer Pre-Disposing Genes: A 12-Month Follow-Up. Familial Cancer. 2004; 3: 109-116. Available at: http://link.springer.com/article/10.1023/B:FAME.0000039863.89137.f9 Accessed on: 2014-09-19.
Ashkenazi Jewish population frequencies of common BRCA1 and BRCA2 breast cancer gene mutations. Am J Hum Genet. 1996; 59: A34.
Association of Professors of Human and Medical Genetics, American Society of Human Genetics. Medical school core curriculum in genetics. ASHG Website. December 2001. Available at: http://www.ashg.org/pdf/Medical%20School%20Core%20Curriculum%20in%20Genetics.pdf Accessed on: 2004-06-15.
B R Bacon, P C Adams, K V Kowdley. Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011; 54(1): 328–343. Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149125/ Accessed on: 2015-09-17.
Baieli S, Pavone L, Meli C, Fiumara A, Coleman M. Autism and phenylketonuria. J Autism Dev Disord. 2003 Apr; 33(2): 201-4.
Bennett RL, French KS, Resta RG, Doyle DL. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors. J Genet Counseling. 2008; 17: 424-433. Available at: http://geneticcounselingtoolkit.com/cases/pedigree/Bennett%20JGC%202008%20-%20Standardized%20Human%20Pedigree%20Nomenclature%20-%20Update%20and%20Assessment%20of%20the%20Recommendations%20of%20the%20National%20Society%20of%20Genetic%20Counselors.pdf Accessed on: 2014-09-03.
Bennett RL, Steinhaus KA, Uhrich SB, et al. Recommendations for standardized human pedigree nomenclature. Am J Hum Genet. 1995; 56: 745-752.
Bennett RL. The Practical Guide to the Genetic Family History, 2nd Edition. . 2010. Available at: http://onlinelibrary.wiley.com/book/10.1002/9780470568248 Accessed on: 2014-08-28.
Bennett RL. The Practical Guide to the Genetic Family History. New York, NY: Wiley-Liss, Inc. 1999.
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol. 2004; 22(6): 1055-1062.
Bird T. GeneReviews: myotonic dystrophy, type 1. GeneTests.org Web site. 2004. Available at: http://www.ncbi.nlm.nih.gov/gtr/ Accessed on: 2005-02-01.
BRAC Analysis Technical Specifications. Salt Lake City, Utah: Myriad Genetics, Inc. February, 2009.
Braithwaite D, Emery J, Walter F, Prevost AT, Sutton S. Psychological Impact of Genetic Counseling for Familial Cancer: A Systematic Review and Meta-analysis. JNCI J Natl Cancer Inst. 2008; 96: 122-33. Available at: http://jnci.oxfordjournals.org/content/96/2/122.short Accessed on: 2014-09-10.
BRCA-1 and BRCA-2 mutations as prognostic factors in clinical practice and genetic counseling. Cancer Treat Rev. 2001; 27: 295-304.
BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer.. J Natl Cancer Inst. 2004 ; 96(1): 15-21.
BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol. 2002; 20: 994-999.
BRCA1 and cell signaling. Oncogene. 2000; 19: 6152-6158.
BRCA1 gene in breast cancer. J Cell Physiol. 2003; 196: 19-41.
BrCa1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes. JAMA. 1996; 275: 1885-1892.
BRCA1, BRCA2, and DNA damage response: collision or collusion? . Cell. 1998; 92: 433-436.
BRCA2 and pancreatic cancer. Int J Gastrointest Cancer. 2002; 31(1-3): 99-106.
BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst. 2003 ; 95(3): 214-21.
BRCA2 is coordinately regulated with BRCA1 during proliferation and differentiation in mammary epithelial cells. Proc Natl Acad Sci U S A. 1996; 93: 13078-13083.
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 1995; 56: 265-271.
Breast cancer gene 1 (BRCA1): role in cell cycle regulation and repair -- perhaps through transcription. J Cell Biochem. 2003; 88: 1084-1091.
Breast cancer genetics overview. [GeneClinics website]. 2003.
Breast cancer information on the Web. Nat Genet. 1995; 11: 238-239.
Burke W. Genetic testing in primary care. Annu Rev Genomics Hum Genet. 2004; 5: 1-14.
Campeau PM, Foulkes WD, Tischowitz MD. Hereditary breast cancer: new genetic developments, new therapeutic avenues. Human Genet. 2008; 124: 31-42. Available at: http://www.ncbi.nlm.nih.gov/pubmed/18575892 Accessed on: 2014-09-02.
Cancer facts and figures 2008. American Cancer Society. 2008. Available at: http://www.cancer.org/research/cancerfactsstatistics/cancerfactsfigures2008/index Accessed on: 2009-10-12.
Cancer facts and figures 2009. American Cancer Society. 2009. Available at: http://www.cancer.org/research/cancerfactsfigures/cancerfactsfigures/cancer-facts-figures-2009 Accessed on: 2009-10-12.
Cancer mortality in relatives of women with breast cancer: the OPCS Study. Int J Cancer. 1996; 65: 275-283.
Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet. 1997; 61(1): 120-128.
Career in genetic counseling: families served. NSGC Website. 1995-2005a. Accessed on: 2005-01-26.
Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genetics. 2001; 106(3): 233-240.
CDC. Hereditary Breast and Ovarian Cancer. CDC. 2013. Available at: http://www.cdc.gov/features/hereditarycancer/ Accessed on: 2014-09-11.
CDC. Unintended Pregnancy Prevention. CDC Division of Reproductive Health. 2013. Available at: http://www.cdc.gov/reproductivehealth/unintendedpregnancy/ Accessed on: 2014-09-03.
Centers for Disease Control and Prevention. 2003 annual report: chapter 6: the family history public health initiative. CDC Website. May 6, 2004. Accessed on: 2004-07-21.
Chabner BA, Thompson EC. Risk Factors for Cancer. Merck Manual Health Handbook. 2013. Available at: https://www.nlm.nih.gov/medlineplus/druginformation.html Accessed on: 2014-09-02.
Chase GA, Faden RR, Holtzman NA, et al. Assessment of risk by pregnant women: implications for genetic counseling and education. Soc Biol. 1986; 33(1-2): 57-64.
Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007; 25: 1329-33. Available at: http://www.ncbi.nlm.nih.gov/pubmed/17416853 Accessed on: 2014-09-02.
Christianson A, Howson CP, Modell B. Global Report on Birth Defects: The Hidden Toll of Dying and Disabled Children, Executive Summary. March of Dimes Birth Defects Foundation. 2006. Available at: http://www.marchofdimes.org/materials/global-report-on-birth-defects-the-hidden-toll-of-dying-and-disabled-children-executive-summary.pdf Accessed on: 2014-09-02.
Claes E, Evers-Kiebooms G, Denayer L, Decruyenaere M, Boogaerts A, Philippe K, Legius E. Predictive Genetic Testing for Hereditary Breast and Ovarian Cancer: Psychological Distress and Illness Representations 1 Year Following Disclosure. J Genet Counsel. 2005; 14: 349-363. Available at: http://link.springer.com/article/10.1007/s10897-005-1371-4 Accessed on: 2014-09-19.
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol. 2002; 20: 1480-1490.
Clinical management of BRCA1- and BRCA2-associated breast cancer. Semin Surg Oncol. 2000; 18: 296-304.
Clinical Tools Inc. . A royal pedigree . Larasig . 2008. Available at: http://www.larasig.com/node/2122 Accessed on: 2015-05-26.
Clinical Tools Inc. . Determining recurrence risk for autism #2. Larasig. 2008. Available at: http://www.larasig.com/node/1841 Accessed on: 2015-05-26.
Clinical Tools Inc. . Determining recurrence risk for autism . Larasig. 2008. Available at: http://www.larasig.com/node/1840 Accessed on: 2015-05-26.
Clinical Tools Inc. . Discussing recurrence risks with patients . Larasig. 2008. Available at: http://www.larasig.com/node/1844 Accessed on: 2015-05-26.
Clinical Tools Inc. . Kaitlin - where are they now?. Larasig. 2008. Available at: http://www.larasig.com/node/1902 Accessed on: 2015-05-26.
Clinical Tools Inc. . Kaitlin's early childhood and diagnosis . LaraSig. 2008. Available at: http://www.larasig.com/node/1769 Accessed on: 2015-05-26.
Clinical Tools Inc. . Kaitlin's evaluation . Larasig . 2008. Available at: http://www.larasig.com/node/1780 Accessed on: 2015-05-26.
Clinical Tools Inc. . Kaitlin's family history . Larasig. 2008. Available at: http://www.larasig.com/node/1786 Accessed on: 2015-05-26.
Clinical Tools Inc. . Kaitlin's feelings about autism research . Larasig. 2008. Available at: http://www.larasig.com/node/1867 Accessed on: 2015-05-26.
Clinical Tools Inc. . Kaitlin's research participation . Larasig . 2008. Available at: http://www.larasig.com/node/1868 Accessed on: 2015-05-26.
Clinical Tools Inc. . Meet Susan . Larasig . 2008. Available at: http://www.larasig.com/node/3329 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan - arranging social services . Larasig. 2008. Available at: http://www.larasig.com/node/3829 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan - family changes . Larasig. 2008. Available at: http://www.larasig.com/node/3828 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan - genetics visit . Larasig. 2008. Available at: http://www.larasig.com/node/3818 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan - impact on family members . Larasig. 2008. Available at: http://www.larasig.com/node/3642 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan - reproductive decisions . Larasig. 2008. Available at: http://www.larasig.com/node/3831 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan - support . Larasig . 2008. Available at: http://www.larasig.com/node/3819 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan chromosome analyses . Larasig. 2008. Available at: http://www.larasig.com/node/3629 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan initiating diagnostic evaluation . Larasig. 2008. Available at: http://www.larasig.com/node/3443 Accessed on: 2015-05-26.
Clinical Tools Inc. . Susan's future . Larasig. 2008. Available at: http://www.larasig.com/node/3832 Accessed on: 2015-05-26.
Code of ethics. NSGC Website. 1995-2005b. Available at: http://www.nsgc.org/ Accessed on: 2005-01-26.
Communicating familial risks: individual and community issues involved in cancer genetics. Community Genetics. 2003; 6(4): 189-191.
Consensus development conference statement: neurofibromatosis. Neurofibromatosis. 1988; 1: 172-178.
Core competencies in genetics essential for all health-care professionals. National Coalition for Health Professional Education in Genetics. 2000. Available at: http://www.nchpeg.org/ Accessed on: 2004-09-21.
Correa-Villasenor A, Cragan J, Kucik J, O'Leary L, Siffel C, Williams L. The Metropolitan Atlanta Congenital Defects Program: 35 Years of Birth Defects Surveillance at the Centers for Disease Control and Prevention. Birth Defects Research (Part A): Clinical and Molecular Teratology. 2003; 67: 617-624.
Counseling About Cancer: Strategies for Genetic Counselors. Dennisport, Mass: Graphic Illusions. 1994.
Danaei G, Vander Hoorn S, Lopez AD, Murray CJL, Ezzati M. Causes of cancer in the world: comparative risk assessment of nine behavioural and environmental risk factors. The Lancet. 2015; 366: 1784-1793. Available at: http://www.thelancet.com/journals/lancet/article/PIIS0140673605677252/abstract Accessed on: 2014-09-02.
Decision-making about genetic testing among women at familial risk for breast cancer. Psychosom Med. 1997; 59: 459-466.
Determining carrier probabilities for breast cancer susceptibility genes BRCA1 and BRCA2. Am J Hum Gen. 1998; 62: 145-158.
Discussion: hereditary ovarian cancer. Gynecol Oncol. 2003; 88: S11-S13.
Easton DF, Ford D, Bishop DT, et al. Breast and ovarian cancer incidence in BrCa1-mutation carriers. Am J Hum Genet. 1995; 56: 265-271.
Elements of cancer genetics risk assessment and counseling (PDQ). Cancer.gov. 2003. Available at: http://www.cancer.gov/about-cancer/causes-prevention/genetics/risk-assessment-pdq Accessed on: 2005-02-11.
Ethical and legal issues. In: Baker DL, Schuette JL, Uhlmann WR, eds. A Guide to Genetic Counseling. 1998.
Eugenics and nondirectiveness in genetic counseling. J Genet Couns. 1997b; 6(2): 255-258.
Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007; 7: 937-48. Available at: http://www.ncbi.nlm.nih.gov/pubmed/18034184 Accessed on: 2014-09-20.
Familial adenomatous polyposis. NIH National Library of Medicine. 2008. Available at: http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis Accessed on: 2011-04-14.
Familial ovarian cancer and early ovarian cancer: biologic, pathologic, and clinical features. Int J Gynecol Pathol. 2002; 20(1): 48-63.
Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. Am J Med Genetics. 1997; 71(3): 315-324.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007; 44: 81-88. Available at: http://jmg.bmj.com/content/44/2/81.short Accessed on: 2014-09-10.
Final report of the task force on genetic testing. NHGRI Website. September 1997. Available at: http://www.genome.gov/10002393#EXECUTIVE
for the Ad Hoc Committee on Genetic Counseling. Am J Hum Genetics. 1975; 27(2): 240-242.
Ford D, Easton DF, Bishop DT, et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994; 343: 692-695.
Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet. 1995; 57: 1457-1462.
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BrCa1 and BrCa2 genes in BrCa families. Am J Hum Genet. 1998; 62: 676-689.
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet. 1997; 60: 1059-1067.
Friedenson B. BRCA1 and BRCA2 Pathways and the Risk of Cancers Other Than Breast or Ovarian. MedGenMed. 2005; 7: . Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1681605/ Accessed on: 2014-09-18.
Gates EA. Communicating risk in prenatal genetic testing. J Midwifery Womens Health. 2004 May-Jun; 49(3): 220-7.
Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet. 2002; 39(4): 225-242.
Genetic Alliance. Chapter 5: Genetic Counseling. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. 2009. Available at: http://www.ncbi.nlm.nih.gov/books/NBK115552/#ch5.I52_Process_of_Genetic_Counseling Accessed on: 2014-09-08.
Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991; 48: 232-242.
Genetic insights into familial cancers -- update and recent discoveries. Cancer Lett. 2002; 181: 125-164.
Genetic testing for breast cancer risk. National Cancer Institute. 2004. Available at: http://www.cancer.gov/ Accessed on: 2004-10-06.
Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent [review]. JAMA. 1997; 277: 1467-1474.
Genetics in medical practice. Genetics Med. 2002; 4(6S): 10S-14S.
GeneWatchUK. GENETIC TESTS AND HEALTH: The Case for Regulation. Briefing Number 28. 2004. Available at: http://www.genewatch.org/uploads/f03c6d66a9b354535738483c1c3d49e4/brief28.pdf Accessed on: 2010-05-01.
Gorker I, Tuzun U. Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. J Psychiatry Neurosci. 2005 Mar; 30(2): 133-5.
Gronwald J, Tung N, Foulkes WD, Offit K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod SA, The Hereditary Breast Cancer Clinical Study Group. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update. IJC. 2005; 118: 2281-2284. Available at: http://onlinelibrary.wiley.com/doi/10.1002/ijc.21536/full Accessed on: 2014-09-12.
Guidelines for evaluation of patients at risk for inherited breast and ovarian cancer: recommendations of the Department of Defense Familial Breast/Ovarian Cancer Research Project. Mil Med. 2002; 167: 93-98.
Haigh B, Huq M, Hayden MR. GeneReviews: Huntington disease. GeneTests.org Web site. 2004. Available at: http://www.ncbi.nlm.nih.gov/gtr/ Accessed on: 2005-02-01.
Harper PS. A Short History of Medical Genetics. Oxford University Press. 2008. Available at: http://books.google.com/books?id=HodgAwAAQBAJ&lpg=PT14&ots=Lc4efJlDkj&dq=history%20of%20medical%20genetics&lr&pg=PT14#v=onepage&q=history%20of%20medical%20genetics&f=false Accessed on: 2014-09-02.
Harris M, Winship I, Spriggs M. Controversies and ethical issues in cancer-genetics clinics. The Lancet Oncology. 2005; 6: 301-310. Available at: http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(05)70166-2/fulltext Accessed on: 2014-11-20.
Hereditary non-polyposis colon cancer. GeneTests Web site. 2004. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1211/ Accessed on: 2005-03-29.
Hereditary ovarian cancer: molecular genetics and clinical implications. Gyn Oncol. 1997; 64: 196-206.
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999; 93: 2502-2505.
Hunter AGW. Medical genetics; 2. The diagnostic approach to the child with dysmorphic signs. CMAJ Website. 2002. Available at: http://www.cmaj.ca/content/167/4/367.full Accessed on: 2006-01-17.
Huntington disease. GeneTests Web site. 2005. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1305/
Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995; 378: 789-792.
Implications of the Human Genome Project for medical science. JAMA. February 2001; 285(5): 540-544.
In search of the tumor-suppressor functions of BRCA1 and BRCA2. Nature. 2000; 408: 429-432.
Inactivation of BRCA1 and BRCA2 in ovarian cancer. J Natl Cancer Inst. 2002; 94: 1396-1406.
Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, Söderström H, Giros B, Leboyer M, Gillberg C, Bourgeron T, Paris Autism Research International Sibpair (PARIS) Study. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. National Genetics. 2003; 34(1): 27-29.
Johnson KA, Brensinger JD. Genetic counseling and testing: implications for clinical practice. Clin Genetics. 2000; 35: 615-626.
Kenen RH, Shapiro PJ, Hantsoo L, Friedman S, Coyne JC. Women with BRCA1 or BRCA2 Mutations Renegotiating a Post-Prophylactic Mastectomy Identity: Self-Image and Self-Disclosure. J Genet Counsel. 2007; 16: 789-798. Available at: http://link.springer.com/article/10.1007/s10897-007-9112-5 Accessed on: 2014-09-19.
Kerrigan D, Kelly J, Hollen B. Understanding Cancer Genomics. National Cancer Institute. 2006. Available at: http://cancergenome.nih.gov/cancergenomics/whatisgenomics/whatis Accessed on: 2014-09-02.
Kramer JL, Velazquez IA, Chen BE, Rosenberg PS, Struewing JP, Greene MH. Prophylactic Oophorectomy Reduces Breast Cancer Penetrance During Prospective, Long-Term Follow-Up of BRCA1 Mutation Carriers. Journal of Clinical Oncology. 2005; 23: 8629-8635. Available at: http://jco.ascopubs.org/content/23/34/8629.short Accessed on: 2014-09-12.
Lancaster JM, Powell CB, Kauff ND, Cass I, Chen LM, Lu KH, Mutch DG, Berchuck A, Karlan BY, Herzog TJ. Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecologic Cancer Predispositions. Gynecologic Oncology. 2007; 107: 159-162. Available at: http://www.ncbi.nlm.nih.gov/pubmed/17950381 Accessed on: 2014-11-20.
Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet. 2004. Available at: http://www.ncbi.nlm.nih.gov/pubmed/14963808 Accessed on: 2010-06-03.
Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007; 96: 11-15. Available at: http://www.ncbi.nlm.nih.gov/pubmed/17213823 Accessed on: 2014-09-17.
Lloyd-Puryear MA, Tonniges T, van Dyck PC, Mann MY, Brin A, Johnson K, McPherson M. American Academy of Pediatrics Newborn Screening Task Force Recommendations: How Far Have We Come?. Pediatrics. 2006; 117: . Available at: http://pediatrics.aappublications.org/content/117/Supplement_3/S194.full.pdf Accessed on: 2014-09-10.
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994; 265: 2088-2090.
Mathews TJ, MacDorman MF. Infant Mortality Statistics From the 2008 Period Linked Birth/Infant Death Data Set. National Vital Statistics Reports. 2012; 60: 9. Available at: http://www.cdc.gov/nchs/data/nvsr/nvsr60/nvsr60_05.pdf Accessed on: 2014-09-02.
Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD, Narod SA. Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers. Journal of Clinical Oncology. 2004; 22: 2328-2335. Available at: http://jco.ascopubs.org/content/22/12/2328.short Accessed on: 2014-09-12.
Miles JH, McCathren RB, Stichter J, Shinawi M. Autism Spectrum Disorders. GeneReviews. 2010. Available at: https://www.researchgate.net/publication/221964335_Autism_Spectrum_Disorders Accessed on: 2014-08-29.
Miles JH, Mccathren RB. Austism overview. GeneReviews. Updated 1 December 2005. Available at: http://www.ncbi.nlm.nih.gov/gtr/ Accessed on: 2009-10-20.
Miller SM, Fleisher L, Roussi P, Buzaglo JS, Schnoll R, Slater E, Raysor S, Popa-Mabe M. Facilitating Informed Decision Making about Breast Cancer Risk and Genetic Counseling Among Women Calling the NCI's Cancer Information Service. Journal of Health Communication: International Perspectives . 2005; 10: 119-136. Available at: http://www.tandfonline.com/doi/abs/10.1080/07366290500265335#.VBw5PvldV8E Accessed on: 2014-09-19.
Milne RL, Knight JA, John EM, Dite GS, Balbuena R, Ziogas A, Andrulis IL, West DW, Li FP, Southey MC, Giles GG, McCredie MRE, Hopper JL, Whittemore AS, Breast Cancer Family Registry. Oral Contraceptive Use and Risk of Early-Onset Breast Cancer in Carriers and Noncarriers of BRCA1 and BRCA2 Mutations. Cancer Epidemiol. Biomarkers Prev. 2005; 14: . Available at: http://cebp.aacrjournals.org/content/14/2/350.short Accessed on: 2014-09-12.
Modifiers of risk of hereditary breast and ovarian cancer. Nat Rev. 1995; 2: 113-123.
Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004 May; 113(5): e472-86.
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? . Am J Hum Genet. 1997; 60: 486-495.
Muthuswamy V. Ethical issues in genetic counselling with special reference to haemoglobinopathies. Indian J Med Res. 2011. Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237255/ Accessed on: 2014-09-10.
National Cancer Institute. BRCA1 and BRCA2: Cancer Risk and Genetic Testing. Cancer.gov. 2014. Available at: http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet Accessed on: 2014-09-03.
National Cancer Institute. Cancer Genetics Risk Assessment and Counseling (PDQ®). Cancer.gov. 2014. Available at: http://www.cancer.gov/about-cancer/causes-prevention/genetics/risk-assessment-pdq#section/all Accessed on: 2014-09-20.
National Cancer Institute. Factsheet: Alcohol and Cancer Risk. Cancer.org . 2013. Available at: http://www.cancer.gov/about-cancer/causes-prevention/risk/alcohol/alcohol-fact-sheet Accessed on: 2014-09-12.
National Cancer Institute. Factsheet: Surgery to Reduce the Risk of Breast Cancer. Cancer.gov. 2013. Available at: http://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet Accessed on: 2014-09-11.
National Society of Genetic Counselors Definition Task Force, Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker, Williams JL. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. 2006; 15: 77-83. Available at: http://www.ncbi.nlm.nih.gov/pubmed/16761103 Accessed on: 2014-08-28.
National Society of Genetic Counselors. NSGC Code of Ethics. NSGC Code of Ethics. 2006. Available at: http://nsgc.org/p/cm/ld/fid=12 Accessed on: 2015-09-18.
NCHPEG, The Jackson Laboratory. Core Competencies in Genetics for Health Professionals . . 2007. Available at: Available at www.nchpeg.org Accessed on: 2014-09-10.
Nelson HD, Huffan LH, Fu R, Harris EL. Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force . Ann Intern Med. 2005; 143: 362-379. Available at: http://annals.org/data/Journals/AIM/20098/0000605-200509060-00012.pdf Accessed on: 2014-09-12.
Newborn screening: a blueprint for the future -- a call for a national agenda on state newborn screening programs. Pediatrics. August 2000; 106(2 pt 2): 389-422. Available at: http://www.ncbi.nlm.nih.gov/pubmed/10947680 Accessed on: 2005-03-15.
Newborn screening: toward a uniform screening panel and system. MCHB Website. March 8, 2005. Available at: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/uniformscreening.pdf Accessed on: 2005-03-14.
Nondirectiveness in genetic counseling: a survey of practitioners. Am J Med Genetics. 1997; 72: 172-179.
Nuclear location and cell cycle regulation of the BrCa2 protein. Cancer Res. 1997; 57: 5485-5488.
Nussbaum RL, McInnes RR, Willard HF. The Process of Genetic Counseling. Genetics in Medicine. 2007. Available at: http://www.us.elsevierhealth.com/genetics/thompson%2Dthompson%2Dgenetics%2Din%2Dmedicine%2Dpaperback/9781416030805/ Accessed on: 2014-09-08.
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2002; 94: 1773-1779.
Palma M, Ristori E, Ricevuto E, Giannini G, Gulino A. BRCA1 and BRCA2: The genetic testing and the current management options for mutation carriers. Critical Reviews in Oncology/Hematology. 2006; 57: 1-23. Available at: http://www.croh-online.com/article/S1040-8428(05)00119-8/abstract Accessed on: 2014-11-20.
Paper presented at: Eighth Annual NCHPEG/GROW Meeting. Bethesda, Md. January 28, 2005.
Patenaude AF. Genetic Testing for Cancer: Psychological Approaches for Helping Patients and Families.. American Psychological Society. 2005; 77: . Available at: http://onlinelibrary.wiley.com/doi/10.1002/pon.926/abstract Accessed on: 2014-09-19.
Paulsen JS, Hoth KF, Nehl C, Stierman L, The Huntington Study Group. Critical Periods of Suicide Risk in Huntington's Disease. The American Journal of Psychiatry. 2005; 162: 725-731. Available at: http://ajp.psychiatryonline.org/article.aspx?articleid=177459 Accessed on: 2014-09-10.
Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennett RL, Gross SJ. Indications for genetic referral: a guide for healthcare providers. ACMG. 2007; 9: 385-389. Available at: https://www.acmg.net/docs/Indications_PG.pdf Accessed on: 2014-09-17.
Plunkett KS, Simpson JL. A general approach to genetic counseling. Obstet Gynecol Clin. 2002; 29: 265-276.
Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995; 57: 1233-1241.
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genetics. February 1992; 42(4): 508-515.
Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals. Patient Educ Couns. September 1998; 35(1): 15-26.
Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. JAMA. 1997; 278: 1217-1220.
Prevalence and penetrance of germline BrCa1 and BrCa2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001; 68: 700-710.
Prevalence of genetic conditions/birth defects. KUMC Website. 1995-2009. Available at: http://www.kumc.edu/gec/prof/prevalnc.html Accessed on: 2009-10-21.
Principles and Practice of Medical Genetics. 2nd ed. New York, NY: Churchill Livingstone. 1990.
Principles and Practice of Screening for Disease. Geneva, Switzerland: World Health Organization. Public Health Papers 34. 1968.
Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst. 1997; 89: 227-238.
Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989; 81: 1879-1886.
Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Baltimore, Md: Johns Hopkins Press. 1998. Available at: http://www.genome.gov/10001733 Accessed on: 2002-04-28.
Prophylactic oophorectomy. Best Prac Res Clin Obstet and Gynecol. 2002; 16: 597-609.
Psychological aspects of genetic counseling. XI: nondirectiveness revisited. Am J Med Genetics. October 1997; 72(2): 164-171.
Psychological effect of genetic testing for Huntington's disease: an update of the literature. West J Med. May 2001; 174(5): 336-340.
Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer. 2002; 38: 2025-2031.
Psychological responses to BrCa1 mutation testing: preliminary findings. Health Psychology. 1997; 16: 63-72.
Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, Evans GR, Narod SA, Isaacs C, Matloff E, Daly MB, Olopade OI, Weber BL. Bilateral Prophylactic Mastectomy Reduces Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: The PROSE Study Group. Journal of Clinical Oncology. 2004; 22: 1055-1062. Available at: http://jco.ascopubs.org/content/22/6/1055.short Accessed on: 2014-09-11.
Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II: BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA. 1997; 277: 997-1003.
Recommendations for medical management of hereditary breast and ovarian cancer: the French Ad Hoc Committee. Ann Oncol. 1998; 9: 143-149.
RG Resta. Defining and redefining the scope and goals of genetic counseling. Am J Med Genet C Semin Genet. 2006; 142C(4): 269-75. Available at: http://www.ncbi.nlm.nih.gov/pubmed/16878300 Accessed on: 2015-09-15.
Rich EC, Burke W, Heaton CJ, et al. Reconsidering the family history in primary care. J Gen Intern Med. 2004; 19(3): 273-280.
Risk factors and risk reduction of breast and ovarian cancer. Curr Opin Obstet Gynecol. 2003; 15(1): 63-68.
Risk of breast cancer with oral contraceptive use in women with a family history of breast cancer. JAMA. 2000; 284: 1791-1798.
Robbins SL, Cotran RS, Kumar V, Abbas AK, Fausto N. Pathologic basis of disease. . 2005. Available at: http://www.ncbi.nlm.nih.gov/nlmcatalog/101214483 Accessed on: 2014-08-28.
Robinson A, Linden MG. Clinical Genetics Handbook. 2nd ed. Boston, Mass: Blackwell Scientific Publications, Inc. 1993.
Robson M, Offit K. Management of an Inherited Predisposition to Breast Cancer. N Engl J Med . 2007; 357: 154-162. Available at: http://www.nejm.org/doi/full/10.1056/NEJMcp071286 Accessed on: 2014-09-19.
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. Journal of Clinical Oncology. 2010; 28: 893-901. Available at: http://jco.ascopubs.org/content/28/5/893 Accessed on: 2014-09-03.
Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation. Oncogene. 2003; 22: 5784-5791.
Ross LF, Saal HM, David KL, Anderson RR, American Academy of Pediatrics, American College of Medical Genetics and Genomics. Technical Report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine. 2013; 15: 234-45. Available at: http://www.ncbi.nlm.nih.gov/pubmed/23429433 Accessed on: 2014-09-10.
Ross LF, Saal HM, David KL, Anderson RR, American Academy of Pediatrics, American College of Medical Genetics and Genomics. Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine. 2013; 15: 234-45. Available at: http://www.ncbi.nlm.nih.gov/pubmed/23429433 Accessed on: 2014-09-20.
Rubinstein WS. Hereditary breast cancer in Jews. Familial Cancer. 2004; 3: 249-257. Available at: http://link.springer.com/article/10.1007/s10689-004-9550-2 Accessed on: 2014-09-18.
S M Moskowitz, J F Chmiel, D L Sternen. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet Med. 2010; 10(12): 851-868. Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810953/ Accessed on: 2015-09-17.
Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell. 2000 Jun 9; 101(6): 657-69.
Scheuner M, Yoon P. CDC's family history tool. Paper presented at: Eighth Annual NCHPEG/GROW Meeting. January 27, 2005.
Schwartz LM, Woloshin S, Black WC, Welch HG. The role of numeracy in understanding the benefit of screening mammography. Ann Intern Med. 1997 Dec 1; 127(11): 966-72.
Scott J, Trotter T. Primary care and genetics and genomics. Pediatrics. 2013; 132: S231-S237. Available at: http://www.ncbi.nlm.nih.gov/pubmed/24298132 Accessed on: 2014-09-02.
SCREEN. Short, simple, sensible: a family history mnemonic for primary care. NCHPEG Newsletter: In Practice. 2005; 2(3): 3.
Secretary’s Advisory Committee on Genetic Testing. A Public Consultation on Oversight of Genetic Tests. National Institutes of Health. 2000. Available at: http://osp.od.nih.gov/sites/default/files/Public_Consultation_document.pdf Accessed on: 2010-06-02.
Sever LE, ed. Guidelines for conducting birth defects surveillance . National Birth Defects Prevention Network Web site. 2004. Available at: http://www.nbdpn.org/current/resources/sgm/Ch_3_Case_Definition6-04%20no%20app.pdf Accessed on: 2006-01-17.
Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA, Bass MP, McClain C, von Wendt L, Vance JM, Abramson RH, Wright HH, Ashley-Koch A, Gilbert JR, DeLong RG, Cuccaro ML, Pericak-Vance MA. Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet. 2002 Jan 8; 114(1): 99-105.
Should genetic health care providers attempt to influence reproductive outcomes using directive counseling techniques? A public health perspective. Women Health. 2000; 30: 39-47.
Sivell S, Elwyn G, Gaff CL, Clarke AJ, Iredale R, Shaw C, Dundon J, Thornton H, Edwards A. How risk is perceived, constructed, and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. J Genet Counsel. 2008; 17: 30-63. Available at: http://link.springer.com/article/10.1007/s10897-007-9132-1 Accessed on: 2014-08-29.
Sloan FA, Gelband H. Cancer Causes and Risk Factors and the Elements of Cancer Control. U.S. Institute of Medicine Committee on Cancer Control in Low- and Middle-Income Countries. 2007. Available at: http://www.ncbi.nlm.nih.gov/books/NBK54025/ Accessed on: 2014-09-02.
Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects. Semin Vasc Med. 2004 Aug; 4(3): 249-57.
Smith RA, Cokkinides V, Brawley OW. Cancer screening in the United States, 2009: A review of current American Cancer Society guidelines and issues in cancer screening. CA: A Cancer Journal for Clinicians. 2009; 59: 27-41. Available at: http://onlinelibrary.wiley.com/doi/10.3322/caac.20008/full Accessed on: 2014-09-17.
Specific keynote: hereditary ovarian cancer: what we know. Gyn Oncol. 2003; 88: S8-S10.
Statement on genetic testing for cancer susceptibility. J Clin Oncol. 1996; 14: 1730-1736.
Study of a single BRCA2 mutation with a high carrier frequency in a small population. Am J Hum Genet. 1997; 60: 1079-1084.
Tai YC, Domchek S, Parmigiani G, Chen S. Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers. JNCI J Natl Cancer Inst. 2007; 99: 1811-1814. Available at: http://jnci.oxfordjournals.org/content/99/23/1811.short Accessed on: 2014-09-03.
Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of BRCA1, BRCA2, BRCA1/BRCA2, BRCA1/p53, and BRCA2/p53 nullizygous embryos. Genes Dev. 1997; 11: 1226-1241.
Tarini BA, McInerney JD. Family History in Primary Care Pediatrics. Pediatrics. 2013; 132: S203-S210. Available at: http://pediatrics.aappublications.org/content/132/Supplement_3/S203.full Accessed on: 2014-09-02.
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995; 11: 198-200.
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet. 1996; 14: 188-190.
The Changing Moral Focus of Newborn Screening: An Ethical Analysis by the President's Council on Bioethics. Bioethics.gov. 2008. Available at: http://bioethics.georgetown.edu/pcbe/reports/newborn_screening/Newborn%20Screening%20for%20the%20web.pdf Accessed on: 2010-06-15.
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Gent. 1996; 12: 333-337.
The complexities of predictive genetic testing [review]. Br Med J. 2001; 322(7293): 1052-1056.
The family medical history. Primary Care. 2004; 31(3): 479-495, vii-viii.
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J. 1973; 108: 1111-1115.
The genetic family history as a risk assessment tool in internal medicine. Genetics Med. 2003; 5(2): 84-91.
The genetics of familial breast cancer. Semin Oncol. 1996; 23(suppl): 1-5.
The historical perspective: Sheldon Reed and 50 years of genetic counseling. J Genet Couns. 1997a; 6(4): 375-377.
The New Genetics and Clinical Practice. 2nd ed. Oxford, England: Oxford University Press. 1985.
The new genetics: psychological responses to genetic testing. Br Med J. 1998; 316: 693-696.
The practical importance of pedigree analysis in women considering invasive prenatal diagnosis for advanced maternal age or abnormal serum screening tests. Prenat Diagn. November 2000; 20(11): 865-869.
The practice of genetic counseling. In: Baker DL et al., eds. A Guide to Genetic Counseling. New York, NY: Wiley-Liss, Inc. 1998.
The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. N Engl J Med. November 1992; 327(20): 1401-1405.
The tumor suppressor gene BrCa1 is required for embryonic cellular proliferation in the mouse. Cell. 1996; 85: 1009-1023.
Thull DL, Vogel VG. Recognition and Management of Hereditary Breast Cancer Syndromes. The Oncologist. 2004; 9: 13-24. Available at: http://theoncologist.alphamedpress.org/content/9/1/13.short Accessed on: 2014-09-19.
Tracing the network connecting BRCA and Fanconi anaemia proteins. Nat Rev. 2004; 4: 266-276.
Turnpenny PD, Elliand SE. Emery's elements of medical genetics. New York: Elsevier/Churchill Livingstone. 2004.
U.S. National Library of Medicine. Genetics Home Reference: BRCA1. U.S. National Library of Medicine. 2007. Available at: http://ghr.nlm.nih.gov/gene/BRCA1 Accessed on: 2014-09-03.
U.S. National Library of Medicine. Genetics Home Reference: MLH1. U.S. National Library of Medicine. 2013. Available at: http://ghr.nlm.nih.gov/gene/MLH1 Accessed on: 2014-09-02.
U.S. National Library of Medicine. What are the benefits of genetic testing?. Genetics Home Reference Handbook. 2014. Available at: http://ghr.nlm.nih.gov/handbook/testing/benefits Accessed on: 2014-09-10.
U.S. National Library of Medicine. What is genetic testing?. Genetics Home Reference. 2014. Available at: http://ghr.nlm.nih.gov/handbook/testing/genetictesting Accessed on: 2014-09-10.
U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab. 2001; 74: 64-74.
United States Preventive Services Task Force. Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement: United States Preventive Services Task Force. Journal of Oncology. 2004; 3: . Available at: http://ispub.com/IJO/3/1/9180 Accessed on: 2014-09-20.
V F Reyna, W L Nelson , P K Han. How Numeracy Influences Risk Comprehension and Medical Decision Making. Psychol Bull.. 2009; 135(6): 943–973. Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844786/ Accessed on: 2015-09-17.
van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HFA, Ausems MGEM, MenkoFH, Gomez Garcia EB, Klijn JGM, Hogervorst FBL, van Houwelingen JC, van't Veer LJ, Rookus MA, van Leeuwen FE. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet. 2005; 42: 711-719. Available at: http://jmg.bmj.com/content/42/9/711.short Accessed on: 2014-09-18.
Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001 ; 68(2): 410-9.
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.. Nat Genet. 1997 ; 15(1): 103-5.
Vasen HFA, Tesfay E, Boonstra H, Mourits MJE, Rutgers E, Verheyen R, Oosterwijk J, Beex L. Early detection of breast and ovarian cancer in families with BRCA mutations. European Journal of Cancer. 2004. Available at: http://www.ejcancer.com/article/S0959-8049(04)00987-6/abstract Accessed on: 2014-09-12.
Veenstra-VanderWeele J, Cook EH Jr. Molecular genetics of autism spectrum disorder. Molecular Psychiatry. 2004; 9: 819-832.
Vincent J, Kolozsvari D, Roberts W, Bolton P, Gurling H, Scherer S. Mutation screening of X-chromosomal neuroligin genes: No mutations in 196 autism probands. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2004; 129B: 82-84.
Vlek C. Risk assessment, risk perception and decision making about courses of action involving genetic risk: an overview of concepts and methods. Birth Defects Orig Artic Ser. 1987; 23(2): 171-207.
Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR, DeBoer, Yaffe MJ, Messner SJ, Meschino WS, Piron CA, Narod SA. Surveillance of BRCA1 and BRCA2 Mutation Carriers With Magnetic Resonance Imaging, Ultrasound, Mammography, and Clinical Breast Examination. JAMA. 2004; 292: 1317-1325. Available at: http://jama.jamanetwork.com/article.aspx?articleid=199438 Accessed on: 2014-09-12.
Whittemore AS, Balise RR, Pharoah PDP, DiCioccio RA, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Oakley-Girvan I, Ramus SJ, Daly M, Usinowicz MB, Garlinghouse-Jones K, Ponder BAJ, Buys S, Senie R, Andrulis I, John E, Hopper JL, Piver MS. Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. British Journal of Cancer. 2004; 91: 1911-1915. Available at: http://www.nature.com/bjc/journal/v91/n11/abs/6602239a.html Accessed on: 2014-09-12.
Who should have a genetics consultation? 1993-2005. GeneTests Website. 2005. Available at: http://www.ncbi.nlm.nih.gov/gtr/ Accessed on: 2005-09-13.
World Atlas of Birth Defects, 2nd edition. World Health Organization Online . 2003. Available at: http://www.who.int/genomics/about/en/1-4.pdf Accessed on: 2006-01-26.
World Health Organization. Congenital anomalies fact sheet. World Health Organization Media Centre. 2014. Available at: http://www.who.int/mediacentre/factsheets/fs370/en/ Accessed on: 2014-08-28.
WW Grody, GR Cutting, KW Klinger. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.. Genet Med. 2001; 3(2): 149-54. Available at: http://www.ncbi.nlm.nih.gov/pubmed/11280952 Accessed on: 2015-09-17.
Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med. 2003. Available at: http://www.ncbi.nlm.nih.gov/pubmed/12568818 Accessed on: 2005-02-15.
Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tato L. A case of partial biotinidase deficiency associated with autism. Neuropsychol Dev Cogn C Child Neuropsychol. 2003 Sep; 9(3): 184-8.
Zoghbi HY. Rett Syndrome. In GeneReviews. Updated 11 February 2004. Accessed on: 2005-05-12.

© Clinical Tools, Inc., 2004-2016