Growing Pains

With the rapid growth of the genetic testing industry, professional opportunities for genetic counselors have expanded rapidly.  Not only are genetic counselors now working in nearly every area of healthcare, many are embracing new roles as laboratory specialists, clinical science liaisons, and in sales and marketing roles for genetic testing companies. Some are entrepreneurs founding their own companies and pioneering new models for access to genetic information. It’s not surprising to see genetic counselors embracing these new roles. Like the founders of our field, seeing opportunities in change and forging new trails in uncharted territory seems to be characteristic of genetic counselors.

But navigating new terrain isn’t often easy.  As written by Alexandra Minna Stern in her historical account of the profession, ”the emergence of the genetic counselor as a bona fide professional was neither inevitable nor smooth.”  

Do other genetic counselors feel that we are currently in the midst of a most turbulent and rocky stretch of our profession’s journey through time?

Although we have had graduates from Master’s level genetic counseling training programs for more than 40 years, as well as a growing body of evidence regarding the value we bring to patient care, we are still reaching for recognition as healthcare professionals. While we seem to be making progress towards this goal, we have yet to be recognized by Medicare and many commercial payers as healthcare providers. Additionally, in many states the quest for licensure remains an incredible challenge.  

One of the biggest obstacles genetic counselors currently face is public perception of genetics and genetic testing. It seems that genetic discoveries that are part of evidenced based strategies to improve human health are increasingly being overshadowed by consumer genetic testing for entertainment. For example, screening for and treating familial hypercholesterolemia is considered to be a Tier 1 genomics application by the CDC given the level of evidence and potential to benefit public health. However it is estimated that less than 1% of the affected population in the US have been diagnosed.

On the other hand, consumer genetic tests are being increasingly utilized. Home DNA test kits through companies such as 23andMe and Ancestry.com were among the top selling holiday gifts this year. Consumer genomic testing claims to provide information about everything from personalized skin care recommendations, to what one’s ideal fitness regimen will work best, to what one’s hypothetical future children may look like. Some companies combine a mix of evidenced based health information with unproven claims related to entertainment and wellness information which leaves many in the field of genetics uncomfortable.

As genetic counselors, we are regarded as experts when it comes to genetic testing. So how should we respond to the flood of options in the direct to consumer space?  How should we be talking about these tests with our patients?  How should we be talking about these tests with other healthcare providers?  These are crucial questions for our profession, but ones that genetic counselors don’t seem to seem to agree on.

Through the media, through our professional discussion forums, and in conversations at genetics conferences over the past couple of years, I have heard two predominant and conflicting messages regarding genetic counselors’ opinion on consumer genomic testing. Some are enthusiastic, and believe the use of such tests should be encouraged as an opportunity for to engage people in the area of genetics, and hopeful that such engagement in any genetic testing will lead to better adoption of genetics into healthcare. Some are concerned about the proliferation of these tests and believe that they may cause more harm than good by blurring the lines between medicine and entertainment, leading to misinformed health decisions, compromising privacy, and creating new and unanticipated conflict for psychosocial family dynamics.

Our field is small with only about 4,000 genetic counselors nationwide. We are all only separated by only a degree or two of separation. A tight-knit community. So it is not surprising that with our profession expanding in so many directions, that we are experiencing some tension and growing pains with these emerging issues.

Whether we believe that consumer genomics is something to be feared or embraced, these tests are out there, people are using them, and it is crucial that we adapt to be able to help the public, our patients, and each other navigate this new terrain.

Do you see consumer genomics as an area that we should encourage, participate in, and guide?  Or should genetic counselors discourage the use of these tests, both on an individual patient level and in policy?  How do you see us adapting to the brave new world of consumer genomics?  

3 Comments

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3 responses to “Growing Pains

  1. Thanks Katie, for a great article w fantastic links. IMO, the horse is already out of the barn. Like it or hate it, millions and millions of consumers have already had DTC genetic testing. Genetic counselors are in a position to be leaders in helping consumers and their clinicians interpret these tests, understand the benefits/limitations, and encourage repeat testing in a medical-grade laboratory when appropriate. Let’s take a leadership position in this growing area of genomics!

  2. Jon Weil

    The questions you raise and the background links you provide are very important and helpful, Katie. However, I think that using the term “entertainment” to characterize the alternatives to “genetic discoveries that are part of evidenced based strategies to improve human health” is counterproductive. Casual acquaintances and close relatives have asked for my overall assessment of 23andMe and of ancestry sites, and they have then asked for help interpreting the significance and reliability of specific results. Although there is an element of “this is fun” in their use of these services, the results are also taken seriously but with appropriate skepticism. We must be careful that the terminology we use is respectful of those we want to address, because the terminology we use will become known, and because it influences our own thinking and perceptions.

  3. Wendy Conlon

    We have an ethical responsibility to make sure that our patients understand the difference between a clinically validated diagnostic test that can be relied upon to make medical management decisions versus the DTC market for which there is often no validation or regulatory oversight, data quality is poor, results are often wrong (false positive and false negative), and careful annotation of a variant for meaning and clinical significance, even if the variant is truly there, is lacking. It is entertainment and shaky entertainment at best. Caveat Emptor.

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