Carrier Screening and Cancer Risk

In the past year, we have rolled out sequencing-based carrier screening as well as a comprehensive cancer risk program. While these two might seem like programs meant for completely distinct patient populations, we are learning quickly how they overlap.

A Case In Point:

We recently saw a patient for prenatal genetic screening, including aneuploidy and carrier screening. She opted to pursue our IMG Universal Screening panel that determines carrier status for over 75 autosomal recessive and X-linked conditions. This patient was identified to be a carrier of Nijmegen Breakage Syndrome (NBS), caused by mutations in the NBN gene. Carriers of NBS have been shown to be at increased risk of breast cancer due to heterozygous NBN mutations. Results counseling quickly became more complex as cancer risk was now part of the conversation. Following her partner’s reflex testing and discussion of prenatal options, we began cancer counseling for the patient. After collecting a four-generation pedigree focused on family history of cancer, we were able to provide the patient with information regarding cancer screening as well as follow-up management recommendations for this patient and her family members, along with comprehensive reproductive risk counseling.

Bridging the Gap:

NBN is one in a growing list of genes that carry both reproductive and cancer risk implications. Many different carrierscreening 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 we expand our prenatal services to routinely offer screening for some of these genes, we will increasingly be equipping our patients and you, as referring providers, with the tools needed to not only best manage their pregnancies, but also their personal cancer risk screening and management going forward.

As technological advances make multiple-gene panels the norm in both carrier screening and cancer risk screening, we all face increased challenges in regards to interpretation, scope, and best practices. The genetic counselors at IMG 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 forms of health concerns.