Shortage of Genetic Counselors in Face of Growing Need

Damian McNamara

March 13, 2017

LA JOLLA, California — Expansion of genetic counseling services into all fields of medicine could help alleviate a growing crisis caused by two realities: the shortage of genetic counseling professionals; and the explosion in the number of patients seeking interpretation of test results in this era of precision medicine.

In most medical settings in North America, there is limited access to genetic counselors, said Jehannine Austin, PhD, from the University of British Columbia in Vancouver, Canada. "We're 'siloed away' in these academic medical centers. To see us, you need a referral from a GP or a specialist."

The problem was exemplified in a recent study of 2451 women diagnosed with stage 0 to II breast cancer from July 2013 to September 2014 (JAMA. 2017;317:531-534), described by Eric Topol, MD, founder and director of the Scripps Translational Science Institute in La Jolla, California, and editor-in-chief of Medscape.

Of the 773 women (31%) considered to be at high risk on the basis of multiple factors, 81% reported wanting genetic testing, 53% reported receiving it, but only 40% reported speaking with a genetic counselor.

"To reap the full benefits, we really need to integrate genetic counselors throughout all disciplines of medicine, including primary care," Dr Austin said here at the 10th Future of Genomic Medicine (FOGM) Conference.

Genetic counselors could help physicians in every specialty, many of whom report feeling unprepared and/or uncomfortable integrating genomic medicine into their practice. "Genetic counselors can help physicians in a number of ways, the most obvious of which is choosing the most appropriate genetic test, technology, or lab," she explained.

Genetic counseling is a form of psychotherapy.

The delivery of genetic counseling is also ripe for reconceptualization by the broader medical community, said Dr Austin. The historic perception is that it should involve "fire hose" approach, aiming information only one way — at the patient — whereas a patient-centered approach in which genetic counselors are trained fosters a back-and-forth discussion about the possible implications of genetic findings.

But information and education are not the only goals of counseling; the psychotherapy component is essential, she added.

In fact, "genetic counseling is a form of psychotherapy," she explained. "Information alone is not enough to get people to change behavior." To increase the chances of success, Dr Austin said she recommends two tactics: people must have "a sense of control over their situations and an opportunity to address their emotions."

A coherent story that links a genetic explanation for the cause of illness with risk-reduction strategies can help, she said. "It sounds really obvious, yet we haven't done it."

Changing a Patient's Perception

Dr Austin presented a composite case to illustrate how genetic counseling can shift perceptions — that of a 50-year-old woman with bipolar disorder who sometimes has to take time off work because of depressive episodes. The woman sought genetic counseling because her 21-year-old daughter was approaching the age she was when she first experienced depression. She believed her depressive disorder was driven entirely by genetics.

When Dr Austin explained that there were likely factors other than genetics contributing to her disorder, "she was horrified." The woman said she never told anyone about her bipolar disorder out of fear of being blamed for it. "I counseled her that no one would blame her for the life events she described to me," Dr Austin said. "

Better sleep, nutrition, exercise, and social support, along with medication, were recommended to help her cope. Dr Austin also reassured the patient it was "not a foregone conclusion that her daughter would develop mental illness."

"She told me that if she knew it was more than genetic, she would have had more children," Dr Austin reported.

On follow-up, the woman reported seeing a psychiatrist for the first time, eating healthier foods, working toward better-quality sleep, and walking every day.

"She had to acknowledge and address her emotions; the counseling component of genetic counseling is very important," said Dr Austin.

Technology to the Rescue?

There are currently 3814 genetic counselors in the United States, and the field is not expected to reach equilibrium with demand for services until around 2024, said James Goldberg, MD, chief medical officer at Counsyl, a health technology company that conducts DNA screening. But "that's assuming no increase in current need, so it's going to be worse than that."

A smartphone app that gathers patient information to help physicians determine risk for heritable cancers was developed by Counsyl. The software builds a pedigree for the patient on the basis of the family history they enter into the app. The technology uses guidelines from the National Comprehensive Cancer Network to assess risk.

"The cost of testing is a roadblock for many patients, so we help them get an estimated cost based on their insurance," Dr Goldberg explained. Counsyl reviewed payment histories from a number of insurance carriers to gather these data.

The technology is also designed to address the shortage of genetic counselors. "We're not trying to take over the role of the genetic counselor. We tried to look at repetitive tasks that don't need individual genetic counseling, like pretest education," Dr Goldberg pointed out. After patients receive their results, they can access general videos online — such as one on "what your results mean" — that explain that just because they don't carry a mutation, they're not necessary at lower risk for cancer.

In addition, patients can use the app to request a telephone consultation with a genetic counselor to go through their individual test results.

An app might help, but Dr Austin said she has a different vision. "I like to imagine a future, as genome sequencing becomes more commonplace, in which we all end up in a place where we have a family genetic counselor, in the same way that we have a family physician," she said.

Dr Austin has disclosed no relevant financial relationships. Dr Topol has served or is serving as a director, officer, partner, employee, advisor, consultant, or trustee for Apple, AltheaDX, Biological Dynamics, Dexcom, Edico Genome, GenapSys, Gilead Sciences, Google, Illumina, Molecular Stethoscope, Myokardia, Quest Diagnostics, and Walgreen Company; and has received research grants from the National Institutes of Health and the Qualcomm Foundation. Dr Goldberg is chief medical officer at Counsyl.

10th Future of Genomic Medicine (FOGM) Conference. Presented March 2, 2017.


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