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PFC Staff Lead ASRM Interactive Session on Genetic Counseling

An increasingly important aspect of clinical care in reproductive medicine involves medical genetics and, specifically, how to test for and avoid genetic diseases or chromosome abnormalities in offspring.

Genetic testing at PFC. It is very important for clinics to provide appropriate genetic counseling to patients who are having their embryos tested. Patients need to fully understand what can and cannot be tested for and whether they themselves should undergo testing to find out if they are at risk of having a child with a serious disease.

At PFC, more than 80 percent of patients undergoing in vitro fertilization (IVF) due to challenges with fertility have their embryos screened for chromosomal abnormalities. These abnormalities may lead to failed embryo implantation, miscarriage, or conception with a viable fetus that has a chromosomal abnormality such as Down syndrome. We also offer genetic testing of embryos to fertile patients who knowingly carry genetic mutations that may put their offspring at risk of a serious genetic disease.

The role of genetic counseling. The interactive session opened with Black describing a variety of genetic counseling specialties. This includes Black’s specialty of reproductive medicine, specifically assisted reproduction and pre-implantation genetic counseling. These genetic counselors provide informed consent for testing in a nondirective and supportive manner to help patients decide what testing they may wish to pursue for themselves or for their embryos.

During the session, Black described how genetic counselors interpret family medical histories and educate patients about genetic inheritance. She also explained how chromosomes configure themselves in early embryonic stages. Dr. Givens followed with a case presentation of a patient with a complicated genetic family history. Through education and genetic counseling, both Dr. Givens and the patient came to a decision about whether or not to test her embryos during IVF and how to deal with potentially affected embryos.

Dr. Givens emphasized that IVF practices offering pre-implantation testing need to have relationships with independent and unbiased genetic counselors. It is only with appropriate counseling that patients can be fully aware of all their options and decide what is best for their individual needs and desires.

Involving session attendees. Attendees at the session included genetic counselors and reproductive service providers. Electronic polling of the audience allowed the attendees to see what their colleagues are currently doing with regards to genetic testing of embryos and how they incorporate genetic counseling into their practices, if at all.

A healthy dialogue with the audience followed the formal presentations. One of the attendees was an IVF physician from England who is in a busy practice that is doing more and more pre-implantation genetic testing. He is trying to convince his partners in the practice to hire a genetic counselor because of the amount of time he is spending discussing genetic testing with his patients—time that could be spent covering his patients’ fertility issues. He and others in the audience expressed that they were encouraged to receive useful information on the value of formal genetic counseling.

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