Genetic Counseling in Healthcare

Genetic Counselor Lauren Bryl and patient

Two Practice Bulletins jointly issued very recently by the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine and a third Committee Opinion from ACOG issued a few months ago provide increased support for genetic counseling as part of the prenatal and hereditary cancer testing process.

Practice Bulletin No. 162, published electronically ahead of print on March 1, 2016, "Prenatal Diagnostic Testing for Genetic Disorders" replaces the Practice Bulletin No. 88 from December 2007. The Bulletin summarizes prenatal genetic screening for a limited number of aneuploidies with the current state of capabilities to diagnose definitively a wide spectrum of genetic disorders following amniocentesis or CVS performed by experienced providers. Among the Bulletin’s recommendations is an emphasis on the role of counseling patients regarding various diagnostic options. The Bulletin highlights the use of chromosomal microarrays which can increase the detection of a pathogenic, or likely pathogenic, copy number variation by an added 1.7% in patients with a normal ultrasound exam and a normal karyotype as well as an added 6% in patients with a structural ultrasound abnormality. The recommendations go on to emphasize the importance of confirming initial results obtained by FISH with conventional karyotyping or microarray. Expert opinion conveyed by the Bulletin states that all pregnant women should be offered prenatal assessment for aneuploidy by screening or diagnostic testing regardless of maternal age or other risk factors as part of a discussion of genetic testing offered as early as possible in pregnancy to accommodate the first-trimester window.

Practice Bulletin No. 163, also published electronically ahead of print on March 1, 2016, "Screening for Fetal Aneuploidy" replaces Practice Bulletin No. 77 from January 2007. The Bulletin highlights both the relative merits of first trimester screening and cell-free DNA aneuploidy screening and emphasizes the fact that whichever screening procedure is used, positive results should be followed by a diagnostic test because any screening procedure has limitations in accuracy and the information it can provide. The Bulletin underscores that the wide variety of screening test options, with all their benefits and limitations, "has resulted in the need for complex counseling… and complex decision making by the patient." The importance of an informed patient choice regarding aneuploidy screening based on shared decision-making that fits the patient’s clinical circumstance, values, interests, and goals is exactly the central practice philosophy of IMG.

Finally, a Committee Opinion issued by ACOG in June, 2015 (No. 634), "Hereditary Cancer Syndromes and Risk Assessment," focuses on the role of specialists in cancer genetics and genetics generally for expanding on initial assessments of cancer risk performed by OB/GYNs when those assessments point to individuals and families who may be at increased risk for developing certain types of cancer. The need for current knowledge of relevant genes associated with types of cancer, the complexity of interpreting family histories and which tests are appropriate – as well as not appropriate - for which individuals are possibly at increased risk, and the education and counseling of patients, and providers, that is associated with these complexities is the focus of the Bulletin. IMG is expanding its genetic counseling staff and supporting growth of their knowledge-base to increase our ability to provide cancer genetics assessments to serve providers and their patients in the Chicagoland area.