Genetic Counseling: What to Know to Make Informed Choices
Mary Parker

Genetic Counseling: What to Know to Make Informed Choices

How counselors can help you plan your medical future by understanding your genetic past

Genetic counselors have a heavy responsibility. Counselors help patients plan for future health issues and propose preventative and diagnostic measures by researching their family’s risk for genetically- linked diseases. To do this they must blend the roles of physician, historian, therapist, and prognosticator, and their treatment advice can change the dynamics of a family for generations.

Counselors as Physicians

The term was coined by physician Sheldon C. Reed in 1947, who chose it deliberately to separate his work from the popular theory of ‘genetic hygiene.’ That term was widely used in Europe, but it had developed negative connotations after being embraced and perverted by Nazi scientists.

“There was no generally accepted name for what I was doing,” said Reed at the time. “I did not like [Danish geneticist Tage] Kemp’s term ‘genetic hygiene’ because the popular concept of the word ‘hygiene’ in the United States had to do with the use of tooth pastes, deodorants, and other irrelevant items. The term ‘genetic counseling’ occurred to me as an appropriate description of the process which I thought of as a kind of genetic social work without eugenic connotations.”

Reed’s biggest innovation was to approach inherited disorders as a compassionate physician, rather than as a supposed public health issue. Eugenicists at the time demonized “undesirable” genetic traits for the “benefit of society.” In Reed’s view, genetics was simply another tool to help patients take ownership of their health, and to plan for their possible medical future.

Counselors as Historians

Since then, genetic research has boomed, and scientists have discovered the genetic roots of thousands of diseases. However, counselors today still start with the same techniques used in the 1940’s: a referral and a detailed family history.

“The referral pattern can be quite different, with patients who have a new diagnosis or a family history of a disease,” said Phil Connors, licensed genetic counselor and Assistant Professor of Obstetrics and Gynecology at Boston University. “The whole point of the visit with a genetic counselor is to personalize that risk assessment. First we draw out a three-generation family tree – not just their diseases, but at what age they were diagnosed and whether they survived. Then the genetic counselor can go over the likelihood of inherited risks, and find out whether their insurance will cover a screening.”

The family history portion of the assessment is crucial, since genetic tests are expensive and can sometimes be misleading. A test for BRCA gene mutations, for example, won’t tell the doctors much on its own. There are many known upstream and downstream genetic factors that contribute to whether a BRCA mutation could lead to cancer, and a family history is crucial to finding the right combination of tests to help patients determine their risk level. For people who don’t have their family histories – maybe their family did not keep track, or they were adopted – it can be challenging to get approval from insurance for expensive tests that may be useless.

“So much of the criteria revolves around family history,” said Connors. “With no history it can be really hard to get coverage for genetic testing. Luckily genetic testing prices are dropping, and the tests are getting more streamlined.”

Counselors as Therapists

Given the sensitive nature of genetic information and knowing how it could affect patients’ family planning decisions, genetic counselors must have more psychology training than the average physician.

“Genetic counselors must take prerequisites in psychology for grad school,” said Connors. “We help prepare patients for the information they receive. Lots of counseling happens in even the most routine appointments, so it is a huge part of our training.”

The rising popularity of direct-to-consumer (DTC) genetic testing kits that can be obtained without a physician’s input makes most genetic counselors wary. On the one hand, they know that information is a powerful tool for patients, and accessibility is important. On the other hand, the tests cannot offer consumers the context that a physician brings to the results.

“There is a risk of misunderstanding,” said Connors. “The concern is that there is a false sense of security with DTC tests. The nuances are hard for physicians to understand, so you can imagine that the average consumer has a hard time knowing that a negative result is not a guarantee.”

As Reed himself knew, the genetic counselor can help patients comprehend their situation, understand the genetic component of their disease, and make informed choices for their health and reproductive decisions.

Counselors as Prognosticators

Finally, after a thorough review of a patient’s history and test results, the counselor and patient plan for the future. They know what diseases to look out for, and can advise the patient to increase the frequency of their diagnostic screenings or recommend preventative surgery. They can also tell the patient to be on the alert for specific symptoms, and can offer odds on the likelihood of passing disease risk on to children. If the patient has children, they will know how to plan for their medical future as well.

“We want to give them information that is digestible,” said Connors. “The results are not always as straightforward as we’d like, but we try to end each visit with a risk assessment.”  

Genetic counseling is one aspect of cancer risk assessment. Millions of people in the United States are diagnosed with cancer each year. To learn more about one patient’s cancer treatment journey, listen to this month’s episode of Eureka’s Sounds of Science.