Phosphorus Research: No Good GC Referral Options. How do GCs Think a Cardiologist Should Proceed?

This week, a cohort of Phosphorians are attending the National Society of Genetic Counselors (NSGC) Annual Conference in Columbus, Ohio. The NSGC Annual Conference is an opportunity for genetic counselors (GCs) in the field to convene, discuss industry developments, and reflect on the state of the profession. Phosphorus was proud to present its scientific poster, entitled “Clear Indication for Cardiogenetics Testing; No Good GC Referral Options. How Do Genetic Counselors Think a Cardiologist Should Proceed?” last night. The poster frames results from our survey of GCs aimed at discerning how they think doctors should proceed with patients when GC guidance is unavailable. Select text from the study is below:

A 10-question survey designed in Survey Monkey was distributed to genetic counselors through various NSGC forums totaling 2,973 members. A genetic counselor may be a member of more than one special interest groups (SIG) and may or may not be subscribed to receive emails posted to the forums. Respondents were asked several questions with answer categories modeled after those of the most recent NSGC Professional Status Survey: specialty area(s); graduation date with M.S. in Human Genetics or the equivalent; and whether or not they were currently working in a clinical role. They were also asked to rate their confidence level in cardiogenetics.

A cardiologist identifies a patient who meets criteria for cardiovascular genetic testing (ex. cardiomyopathy, arrhythmia, familial hypercholesterolemia) and does not have a good genetic counseling referral option in the area. The patient’s insurance will not cover telegenetic counseling. Results of the testing have the potential to significantly impact the patient’s medical management and potentially the patient’s family members’ medical management. What do you think the cardiologist should do?
0.45% (n=1) responded that the cardiologist should not discuss with the patient.
8.04% (n=18) responded that the cardiologist should discuss with the patient but not order.
91.52% (n=205) responded that the cardiologist should order.

Counseling, test selection, and results interpretation for cardiogenetics is complex, and multidisciplinary care involving a genetic counselor with expertise in cardiovascular genetics is ideal. In 2017, despite some progress, access to genetic counseling services is still sometimes limited, particularly for cardiovascular indications

The practical ramifications of cardiogenetics testing only being ordered when a genetic counselor is involved is that many patients will go undiagnosed, with those patients receiving care in a community setting or without the easy option of a referral to a specialty center disproportionately affected. Results from this survey indicate that, when referral to a genetic counselor is not feasible, a large majority of genetic counselors (>91%) think that cardiologists should order genetic testing, assuming all elements in the given case example are present.

Given this broad support from surveyed genetic counselors, it would be valuable to conduct an educational needs assessment around cardiologists’ genetics education and training. Given the advent of NGS, not providing such support may mean an increase in cardiogenetics testing without appropriate knowledge and counseling.

If cardiologists are not better equipped to address genetics with their patients, this also may mean a greater chance of cardiogenetics testing leapfrogging to Direct-to-Consumer testing, as has increasingly become the case with cancer genetic testing.

A survey of 224 genetic counselors found that >91% of respondents overall thought that given a clear indication for cardiogenetics testing and no good GC referral options, a cardiologist should order genetic testing for his or her patient.

If those GCs who reported little to no knowledge of genetics were excluded, 93% of GCs (n=148) were in favor of cardiologists ordering genetic testing assuming adequate counseling knowledge.

Further studies, including an educational needs assessment of cardiologists, may be helpful in identifying ways to help support cardiologists in providing high quality genetics services to patients

View the poster below:




Phosphorus Diagnostics is using genomics to improve human health. We offer the most comprehensive, actionable #genetic test for disease prevention.

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Phosphorus Diagnostics

Phosphorus Diagnostics

Phosphorus Diagnostics is using genomics to improve human health. We offer the most comprehensive, actionable #genetic test for disease prevention.

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