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

Medical students will recognize the indications for a diagnostic genetics evaluation and the profound impact a genetic diagnosis can have on the family.

: 1 hr

After completing this activity participants will be able to:

  • Recognize pediatric patients who may benefit from a diagnostic genetics evaluation

  • Take a multigenerational family history, with attention to the major components that should be included consistently

  • Use effective and respectful language when obtaining family history and discussing genetic conditions and birth defects with patients

  • Identify at-risk family members when there is a family history of a chromosome abnormality

  • Evaluate the role of cytogenetic testing for a child with congenital anomalies

Professional Practice GapsIn 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. 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.