Do Doctors Recommend Genetic Testing?

doctor talking with patient at hospital AT-GC virtual genetic counseling

Physicians go through quite a bit of training to be able to do their jobs. Take it from the wife of a medical resident – there is possibly no one else who fully understands what medical students and residents go through to eventually practice on their own and take care of patients. In medical school they learn about each and every bodily system in great detail over the course of two years, with many exams along the way to test their knowledge. The last two years of medical school is filled with clinical rotations where they get a glimpse of the many different specialties – internal medicine, surgery, anesthesia, obstetrics, etc. At the end of four years of medical school and two national board exams, they apply to residencies of the specialty of their choice. Then from as little as three years to as many as 5+ years, they learn how to master their specialty in residency, working up to 80 hours a week. Needless to say, they become very good at their jobs.

As a genetic counselor, it has been very interesting to be married to a medical student and now resident. I have the great opportunity to see how much training they receive in genetics. In medical school I remember my husband receiving lectures from a genetic counselor, who reviewed in a series of lectures the basics of medical genetics. On their board exams (every physician has to take four or more national board exams to be board certified over the course of their training), they are asked questions related to genetics and pharmacogenetics, the study of drugs and genes. In training, physicians have the opportunity to learn about referrals and when it’s important to refer patients to specialties, such as cardiology, neurology, and even genetics. If chosen, physicians can also specialize in residency to become geneticists. Physicians are increasing their referrals to genetic counselors as genetic testing advances into many different medical specialties.

Genetic testing has become much more common and affordable over the past few decades. As we learn more about our genes and their influence in disease and health, physicians can use that knowledge to better treat their patients. So, the answer to the question if doctors recommend genetic testing? Yes. And here’s why:

Improve medical treatment:
If a physician knows exactly what’s going on, it’s much easier to treat and know what will happen next. For example, let’s say a child comes into the hospital with muscle degeneration and regression. Genetic testing indicates that child has a specific form of muscular dystrophy. The physician will know how the disease progresses and what to watch for. Another patient receives a positive genetic testing result for dilated cardiomyopathy, prior to manifesting symptoms. Their doctor can perform the screening needed and treat any symptoms that may arise specific to that condition.

Decide which screening tests are needed:
Following a breast cancer diagnosis, a person gets a genetic testing result indicating they have a gene mutation in the BRCA1 gene. Their physician will know to not only monitor for recurring and new primary breast cancers, but also screen the patient for ovarian cancer and other cancers associated with that gene mutation. By knowing which screening methods a patient needs, their doctor can catch a cancer in its early stage and treat accordingly, which will potentially save the patient’s life.

Know when to refer to a specialty:
Sometimes your doctor may not be able to provide you with all the necessary medical treatment or screening you may need following a positive genetic test result. For example, if your doctor diagnoses you with depression and is unsure which medication is best to try, he or she may refer you to a psychiatrist. A psychiatrist may do a genetic test to see which drug is best for you based on your genetics.

Aid in treating additional family members at risk:
While some genetic conditions occur randomly in one person in their family, often genetic conditions are inherited, or passed down through generations in a family. Your doctor can also help other family members receive the medical treatment or screening that they need to stay healthy. In addition, your doctor can help you explain and discuss the genetic condition with your family members.

Discuss future risks in pregnancy:
If you receive a positive genetic testing result, you could possibly pass on your gene mutation to a pregnancy. In addition to a genetic counselor, your doctor can discuss your options in pregnancy and, depending on the genetic condition, if you can get pregnant in the future.

If you are concerned that you need genetic testing and are unsure where to start, talk to your doctor. Your doctor can refer you to a genetic counselor, who will determine which genetic testing is appropriate. A genetic counselor will also work with your doctor to make sure you are provided with the best care. Often genetic testing requires your doctor’s signature in order to proceed. Sometimes physicians will order genetic testing themselves for their patients and refer their patients to a genetic counselor when necessary. Your doctor can help you determine the best course of action to proceed with genetic testing.

If you are interested in genetic testing or are unsure if you need genetic testing, please contact AT-GC and schedule an appointment with a genetic counselor.

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