The Growing Integration of Genetics into OB/GYN practice

An increasing challenge in our obstetrics and gynecology practices is information overload – how many issues can we address in the time that we have to spend with each patient? As clinic times get shorter and the list of potential concerns to address gets longer, we are faced with making decisions on how to best offer the optimal level of care in the time we have to provide it.  This is becoming especially true with respect to genetics.  Because of that, many practices are finding that having a relationship with a genetics care provider is likely to alleviate the pressures on their time, especially as genetics becomes a more frequent topic of conversation with every patient.

Lee Schulman

Lee Shulman, MD, FACOG, FACMG (top, left) is a Medical Director at Insight Medial Genetics. Dr. Shulman is board certified in both OB/GYN and Clinical Genetics and serves as the Anna Lapham Professor of Obstetrics and Gynecology as well as the chief of the Division of Obstetrics and Gynecology- Clinical Genetics at Northwestern University Feinberg School of Medicine.

Preconception Genetic Carrier Screening

Many professional societies are now recommending that physicians offer preconception counseling and carrier screening for genetic disorders to patients irrespective of family history and ethnic background. A recent ACOG committee opinion also supports offering carrier screening by universal, multi-disorder panels to patients considering reproductive options. Many laboratories are offering various and differing multi-gene carrier screening panels. But not all panels are created equal.

Differences in DNA testing technology, detection rates, availability of reflex testing for the partners of identified carriers and prenatal diagnosis are only some of the growing concerns that emerge when delving into the world of multi-gene preconception carrier screening.  A genetic counselor can help navigate the complex testing options, assess and help choose the appropriate testing laboratory, and importantly manage patient expectations, results, and follow-up care to relieve a significant burden from your practice.

Cancer Family History

Recent updates in professional society recommendations also urge us to gather information regarding personal and family histories of cancer during routine visits. In order to adequately address a family history of cancer, one must not only be familiar with traditionally recognized hereditary cancer syndromes, but also stay up to date with the ever-changing landscape of new genes and pan-cancer testing panels that are now clinically available.

Concerns regarding hereditary predisposition to breast and ovarian cancer have expanded our genetic assessment far beyond BRCA1 and BRCA2.  Additionally, many other cancers are now being implicated in hereditary cancer predispositions. A valuable tool any practice should have is an accessible cancer-risk genetic counselor, one who can support the clinician by educating patients, spending time collecting detailed personal and family history information, and parsing through the various available tests to identify the most appropriate, clinically useful testing for your patients.

Overlapping Concerns

Many different carrier-screening panels include genes that are traditionally linked to severe, life-threatening autosomal-recessive disorders such as Fanconi Anemia (genes: PALB2, BRIP1, etc.), Nijmegen Breakage Syndrome (gene: NBN), and Ataxia Telangiectasia (gene: ATM) amongst many others. As hereditary cancer research evolves, we are learning that many of these genes also have cancer risk implications for carriers – a consideration largely ignored outside of the reproductive context. BRIP1, PALB2, NBN, and ATM are all genes that are included on several cancer-risk panels, especially panels relating to hereditary breast cancer.

As genetic testing becomes more common in the routine OB/GYN visit, it is becoming crucial to provide pre- and post-test counseling regarding the broader implications of testing.

Shreshtha Madaan

Shreshtha Madaan, MS, LCGC (right) is a licensed and board certified genetic counselor at Insight Medical Genetics.

“A woman interested in preconception carrier screening may need to now modify her cancer risk management, while someone obtaining cancer risk testing may not have previously considered the impact on family planning and reproductive risks” says Shreshtha Madaan, a licensed board certified genetic counselor at Insight Medical Genetics (IMG).  “As a genetic counselor, my goal is to provide personalized risk assessments based on my patients’ individual needs at various stages in their lives”.

As genetic testing complexity increases, the opportunities for gaps in patient care open up opportunities that a genetic counselor can best fill. All of the genetic counselors at Insight Medical Genetics are fully trained in providing both cancer-risk assessment as well as reproductive counseling, bridging the gap and allowing patients to get comprehensive counseling for both health concerns.