Bay Area Genetic Counseling
Amy Vance, MS, CGC
Licensed and Board Certified Genetic Counselor
Most babies are born healthy, but about 3-5% have a birth defect or problem with development. Some of those problems happen by chance, and some can be inherited.
One benefit for people undergoing fertility treatment is that there is an opportunity to learn about risks for genetic conditions before a pregnancy occurs. Family history evaluation by a Genetic Counselor is the foundation for evaluating risks for genetic conditions and offering appropriate testing.
Genetic counselors are medical professionals trained specifically in evaluating family health history and helping the patient decide which genetic testing is going to be best suited to their needs. Genetic counseling is not the same thing as genetic testing.
Collecting family health history involves asking questions about a person’s health and their family. Most people have family members with different health issues, some of which can be inherited. Most of these inherited genetic conditions are not detectable by standard genetic testing done by fertility clinics or prenatal care. For example, if a parent-to-be has a family member with a childhood condition, such as a birth defect or severe learning problem, he or she could have a higher chance of passing something similar to a child. In the case of IVF, collecting detailed family history on both parents before or early in the IVF process can better inform couples regarding the chances for an inherited condition in a future child.
Collecting detailed family health history can help couples decide which of the over 150,000 genetic tests available today are best for them.
A genetic counselor will integrate the family and health information, genetic testing results, along with personal values and goals, into one complete picture. With so many different tests on the market, and so much at stake, a genetic counselor offers a strategic and personalized approach.
By having this information early, people are able to access the growing number of genetic tests available, expand their options for family planning, improve the management of pregnancy or neonatal care, and take advantage of treatments for inherited disease.
Testimonial from IVF physician I have worked with for over 20 years; he refers all patients and donors
The main reason to require genetic risk assessment is because it is basic good medicine.
1.The field of genomics is expanding so rapidly that no one without a special interest in genetic risk assessment can keep up and do a good job.
2. A screening policy only as good as its weakest link and I believe that it is important that all the patients that undergo treatment in a program get to have the same genetic risk assessment otherwise general health screening and carrier screening remains incomplete and can lead to bad outcomes that are preventable.
3. Given that some patients use their own gametes and others use a donor gamete, it is imperative that someone make the final determination that the egg and the sperm are a match and the best person to do this is someone who’s whole focus is the evaluation of the genetic risk for that set of gametes. I do not believe that the IVF practitioner is the best person to do this.
4. Another major benefit is the physician time saved, allowing the IVF practitioner to focus on the medical side of the IVF process, knowing that all patients have passed the basic genetic risk assessment and have been offered appropriate testing and advice.
5. There is also the medico-legal protection that a policy of requiring genetic risk assessment provides. Once the relevant family history has been elucidated, carrier screening has been performed and the recommendations for additional testing or for Preimplantation Genetic Testing (PGT) in its various forms has been documented, patients who choose not to follow the recommendations can then be required to complete a waiver before the cycle is initiated.
About: Amy Vance is a Board Certified and Licensed genetic counselor and founder of Bay Area Genetic Counseling. She is respected as a leader and innovator among genetic counselors. She has provided genetic counseling since 1991, with expertise in prenatal, pediatric, adult, cancer, and reproductive genetics
At EDI, we know these decisions are not easy. Our entire team, along with a multitude of genetic counselors, will work with your IVF clinic and physician to provide you with the information and support you need when growing your family.