Preimplantation genetic testing (PGT) for single gene disorders relies on identifying the mutation in the at-risk parent prior to testing embryos. Not all fertility clinics have invested in having board certified genetic counselors to assist patients take that first step to make an informed decision about genetic testing. Luckily, telegenetic counseling — consultation with a certified genetic counselor by phone or video conferencing — is available to you, regardless of your location or busy schedule.
Telegenetic counseling, says Jill Davies, co-founder and CEO of Gene Matters, “helps reach more patients by breaking down some of the barriers people may face in the traditional system.”
What Is Telegenetic Counseling?
Telegenetic counseling brings the advantages of telemedicine to genetic counseling. Telemedicine, also called telehealth, allows patients to meet with a health care provider virtually from any location via phone or computer. Genetic counselors, whose role is to interpret genetic test results for patients and educate them about the associated risks and options, can offer this service to patients.
During a genetic counseling session, counselors typically take a complete family history to make sure they address all potential genetic risks and concerns. In family planning sessions, they learn about prospective parents’ goals and values as they relate to conception, adoption and reproductive medicine. They also discuss how prospective parents might use the genetic information and how they will feel about it. They review with the client the results of their genetic tests and interpret the associated risks. Or, if the client hasn’t had testing yet, the counselor can recommend, and sometimes facilitate, the tests that would best address their particular concerns about genetic risks.
Based on prospective parents’ test results and the associated risks, “We explain to them all of the various options that are available, which run the gamut,” says Betsy Swope, a certified genetic counselor and head of reproductive genetics at Genome Medical, a telegenetic counseling company, “from natural conception to IVF or adoption. Then we walk them through the pros and cons associated with each of those.”
Genetic counselors can do all of this, Swope says, “via video conference through a secure link that patients can access from wherever they are. We recommend that they have a camera on their computer, so that we can have that face-to-face interaction.”
What Are the Advantages of Telemedicine?
For many people, genetic counseling would not be an option if it weren’t for telegenetic counseling. “If you’re living in a remote, rural area, getting in to see a genetics professional, could be a five-hour drive,” says Davies.
But, it’s not only people who live in remote areas who enjoy the advantages of telemedicine. In-person appointments with health care providers may take weeks to schedule. Many telegenetic counseling services can offer an appointment within 48 hours, including nights and weekends.
“Within 48 hours, in preparation for the session, we can get any test results that are already available, your medical record and speak to your health care provider about your concerns,” says Swope.
In-person health care appointments can be time-consuming and require time off work. For prospective parents who want to be in the same room together when they learn their test results, telegenetic counseling can take place at home in the evening after work.
Even after taking time off work to see a doctor face-to-face, the 15-minute doctor visit can leave patients with unanswered questions. “We are an additional resource that supports physicians and gives patients the time to ask questions and understand why they’re doing a particular test, what the results will mean, and what they will do with that information,” says Davies. “Helping them think through all of that is a valuable part of what genetic counselors do.”