Genetics: A Basic Human Genetics Primer: Part II

Understand the basic principles of medical genetics.

: 1 hr

After completing this activity participants will be able to:

  • Explain aneuploidy and common structural chromosome abnormalities

  • Differentiate between disease-causing DNA mutations and polymorphisms

  • Identify Mendelian inheritance patterns

  • Describe nontraditional inheritance mechanisms

Professional Practice GapsThere has been considerable discussion about the genetics revolution in healthcare, the insufficient numbers of genetics professionals to meet predicted demands, and the potential burden PCPs may experience. In an effort to define what healthcare providers need to know about medical genetics, several organizations developed core competencies (NCHPEG, 2000; ASHG, 2001). However, because clinical genetics is a relatively young and evolving field of medicine, many practitioners received insufficient formal genetics education. As a result, they express a lack of confidence in their clinical genetics knowledge and a lack of confidence in their ability to provide genetic counseling. Dr. Francis Collins, Director of the National Institutes of Health, has stated that it will be "critical to integrate genetics into continuing medical education so that current practitioners will have the knowledge and skills to effectively and responsibly incorporate new genetics knowledge and technologies into practice" (Collins, 1999, p.49).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: 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: Accessed on: 2004-09-21.
Shattuck Lecture: medical and societal consequences of the Human Genome Project. N Engl J Med. 1999; 341: 28-37.