Genetic Counselor: The Many Roles That Add Up to Greater Value

As the complexity of genetic testing has grown, so have the roles of the genetic counselor.

Advances such as next-generation sequencing and SNP microarrays have made genetic testing applicable across the healthcare continuum, from diagnostics and prenatal screening to oncology and pharmacogenetics. Yet, many health systems need help in dealing with this complexity.

Genetic counselors are ideally suited to aid health systems and create value throughout the care cycle. Genetic counselors:

As a result, genetic counselors can:

  1. Have a Master's-level education
  2. Have extensive genetics and medical knowledge
  3. Have highly trained counseling skills
  4. Serve as effective mediators
  5. Improve test selection and interpretation
  6. Advocate for patients and families
  7. Work directly with clinicians to enhance care.

1. Test Consultant and Interpreter

"Our ability to capture genetic data has far surpassed our ability to understand it, and then translate what it means to the patient."

–Jessie Conta, Genetic Counselor at Seattle Children's Hospital.

Genetic tests in the past captured a single gene variant associated with disease. Today, multiplex gene panel tests can capture variants across the entire genome–and results can have numerous, often ambiguous implications for patients.

Faced with this complexity, health systems can employ genetic counselors as consultants to help:

Identify which patients may benefit from genetic testing, and which may not;

Navigate the rapid evolution of testing options;

Optimize testing for particular patients with particular conditions;

Bring clarity to ambiguous results and explore further testing options;

Consult with clinicians throughout the testing process;

Advise clinicians on applying results to therapy.

A recent study from Stanford Medicine found that between one-quarter and one-half of breast cancer surgeons treated patients with known cancer-associated mutations no differently than those without–signaling the need for more guidance from

2. Advocate for Patients and Families

Patients and families often have significant misunderstandings about genetic testing.

Genetic counselors can work with patients to find the right test for them, clarify misunderstandings, and guide them through the testing process.

Research from Columbia University1 found that patients often believe that "genetic tests are more predictive than they actually are, and that they are predictive of behaviors for which no markers have in fact yet been discovered."

They're also largely divided on its efficacy. 56% of Americans are interested in taking a test indicating their likelihood of developing Alzheimer's or cancer, while 42% are not, according to a Harvard study.²

Genetic counselors can act as advocates for patients and families, helping to:

Determine whether testing is likely to prove beneficial

Clarify misunderstandings about the testing process

Set expectations for how results may realistically impact care

Explain complicated or ambiguous results

Advocate for patients when testing may positively impact care

In other words, genetic counselors can act as a source of education, comfort, and confidence with genetic testing.

3. Mediator with Patients and Providers

Genetic testing can be a contentious subject, and genetic counselors have the soft skills needed to navigate difficult conversations.

With patients, genetic counselors can:

Help meet the emotional needs of patients in dealing with difficult information

Humanize the experience of genetic testing

Softly coax patients out of strongly-held, but false beliefs

"Individuals may realize intellectually that their beliefs are irrational, but nonetheless hold, or be swayed by them," the Columbia University research found.

With providers, genetic counselors can:

Provide education and guidance without undermining provider expertise

Persuade providers to pursue a more productive course of actio

Provide clarification when results are misunderstood

Support providers in having difficult conversations with patients

4. Aide in Cost and Quality Improvement

While the cost of genetic testing has fallen dramatically, tests still generally cost between $100 and $2,000 each.³ Unnecessary testing is counterproductive for both patients and health systems.

Research from the University of Michigan found that while one genetic test blood clotting test yields few changes to care, health systems still spend roughly a half billion dollars annually on its use.⁴

Genetic counselors can help ensure that tests will provide demonstrable value to patients, while improving utilization and avoiding unnecessary expenses.

"When providers want insurance preauthorization for a test, we help them write a strong argument and medical rationale to justify it, and then optimize the test for the patient. In that way, we're able to catch errors and prevent tests about 30% of the time. For tests that are approved, I feel really good about being able to be an advocate for the patient–this test is important and I'm willing to pay this much money before we proceed."
–Jessie Conta

Growth of the Role

Because of their unique set of skills, genetic counselors are finding themselves increasingly in demand.

The 2016 Professional Status Survey⁵ from the National Society of Genetic Counselors found that genetic counselors have integrated into a variety of settings, including:

With providers, genetic counselors can:


medical centers

& public health systems

maintenance organizations


organizations & agencies

The survey also found that work for genetic counselors has expanded into new areas, including:



Laboratory support

Public and professional education

Web content development

Public health


The Bureau of Labor Statistics estimates that employment for genetic counselors will grow 29% between 2014 and 2024, considerably higher than the average of 7% for all occupations.⁶

References: 1. Klitzman, Robert L. Misunderstandings Concerning Genetics Among Patients Confronting Genetic Disease, Journal of Genetic Counseling. Available at: 2. The Public And Genetic Editing, Testing, And Therapy. Available at: 3. Genetics Home Reference, What is the cost of genetic testing, and how long does it take to get the results? Available at: 4. Institute for Healthcare Policy & Innovation, University of Michigan. A lot of blood, for no reason? U-M team concludes that common, costly clot test has few benefits. Available at: 5. National Society of Genetic Counselors, 2016 Professional Status Survey Reports. Available at: 6. Bureau of Labor Statistics, Occupational Outlook Handbook. Available at:

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