Direct-to-consumer (DTC) genetic tests have made genetic testing readily available to the general public. All it takes is a sample of blood or saliva, and the DNA in that sample can be tested for a wide variety of genetic markers that help predict whether there is an increased risk for celiac disease, breast cancer, Alzheimer’s disease or Parkinson’s disease – all without ever seeing a healthcare provider.
But when there is an increased risk identified, the report is rarely the end of the story. A visit with a genetic counselor can help you get a better idea of what the results mean.
A genetic counselor is trained to interpret test results, explain what they mean and put the results in context, according to Daniel Riconda, associate professor of molecular and human genetics and director of the Genetic Counseling Program at Baylor College of Medicine.
For example, 23andMe only tests for three mutations of the BRCA1 and BRCA2 genes, which indicate an increased risk for breast and ovarian cancers. A person taking an at-home test can test negative for those three variants, but still be at risk for one of the hundreds of other variants for which the 23anMe test does test.
“False positive results on direct-to-consumer testing can happen, and false negative results have also been described,” Riconda said. “People who utilize DTC genetic testing need to know the limits of such testing.”
What does a genetic counselor do?
A genetic counselor starts every appointment by determining the patient’s needs and goals. Next, the counselor lays out follow-up care options based on those goals. For example, a cancer patient’s genetic information may impact their course of treatment or future surveillance and screening.
A visit to a genetic counselor also comes with a detailed look at the patient’s genetic family history, or pedigree. That may provide insight on other hereditary health conditions that need to be addressed. Additionally, the test may reveal a genetic condition that runs in families.
“That’s one of the things that is unique to genetics — it doesn’t only impact the person in the room. The results of genetic testing may make it necessary for the tested individual to consider sharing the information with other family members.”
Sometimes, a genetic counselor is there to help a patient come to terms with a diagnosis or the risk of a diagnosis. They can offer emotional support and connect the patient with other individuals with their condition or refer them to community support groups.
“Genetic counselors are not in the business of telling people what to do. We empower, inform and facilitate decision-making,” Riconda said. “Oftentimes, genetic counselors engage with patients at a time when they’re vulnerable and we try to help them navigate the complexities of their situation.”
Virtual genetic counseling
Obtaining an at-home genetic test can be relatively easy, but for many patients, seeing a genetic counselor in person is much harder. The Department of Molecular and Human Genetics at Baylor has developed a secure, online genetic counseling platform called Consultagene to address the access issue.
Consultagene provides telegenetic counseling services, educational videos and peer-to-peer consultation for physicians. Patients can make an appointment to speak with a genetic counselor in person, through a video call, or through a phone call if they do not have computer access.
“This is a tool for those who don’t have immediate access to a genetic counselor,” Riconda said. “If someone lives in El Paso, instead of traveling hours to get to Houston, they can see a counselor remotely from the comfort of their home or their physician’s office.”
Each patient referred to Consultagene receives access to a series of short videos with genetics lessons based on their needs. The videos help the patient to participate in decisions about genetic screening.
“The patient comes in more informed and focused,” Riconda said. “It makes them think of questions they wouldn’t have thought of otherwise. The preparation helps create more time during the appointment to address emotional support needs.”
Learn about Genetic Counselor Awareness Day.
See more resources from the National Society of Genetic Counselors.
-By Molly Chiu