Reply to letter from Drs. Ledbetter, Saul, and Moeschler

Reply to letter from Drs. Ledbetter, Saul, and Moeschler

I would like to respond to the letters from Drs. Ledbetter, Saul, and Moeschler. To argue the preferability of a “genotype first” versus “phenotype first” approach is akin to arguing over the placement of the deck chairs on the Titanic. In the face of personalized medicine, direct to consumer marketing, and the skyrocketing number of genetic tests, there are far greater issues that need to be recognized and new approaches that need to be created. The community of clinical genetics can choose to be a part of the genetically based revolution in health care that they helped to create or they can let new implementation models pass them by while quibbling over whether a “genotype first” or “phenotype first” approach is best.

In an ideal world, a skilled physician, such as a clinical geneticist, would be at the helm of the diagnostic workup of a child with developmental delays. Insight based on the findings of a complete physical examination and family history would guide appropriate testing, allowing appropriate and accurate genetic counseling. However, given the realities of today's health care system, it is critical to ask ourselves whether achieving this ideal is realistic.

Consider the viewpoint of a busy primary care physician, challenged with shepherding a family through what may be the beginning stages of the diagnostic odyssey. Chances are that the family has no (or inadequate) health insurance. The mother likely will be challenged by taking more than a few days off from work for other appointments, and the physician envisions multiple subspecialty referrals in addition to occupational therapist, physiotherapist, and other services in this family's future. The pediatric subspecialists may well be in another city and have a waitlist of several months. The physician must consider all of these factors when making referrals and recommendations. The physician must also consider how to help the family get the most out of these referrals. If the physician orders the first line of diagnostic tests (including microarray) at the time of referral, it is possible the diagnosis will be established months earlier than if the test had to be ordered by the specialist. Alternatively, if the test is negative, it has eliminated several conditions from the differential diagnostic. In either situation, the specialist will have more information at the time of the appointment, potentially shortening the diagnostic odyssey and possibly enabling the family to access services, such as early intervention and treatment protocols, in a more timely fashion.

Consider this analogy. A conductor of a major orchestra believes that the best way to hear great music is in a concert hall. In his opinion, a recording is a poor substitute and should not be tolerated. Obviously, this is simply not realistic. Recordings are the only way that a certain segment of the population will ever hear such music, and although it may not be of the same high quality as listening in the concert hall, it is certainly better than no music at all. One cannot let perfect be the enemy of good.

In a way, however, the entire discussion to this point is of limited relevance. The fact of the matter is that primary care physicians will be ordering genetic tests, sometimes appropriately and sometimes not. With the advent of direct to consumer companies, the public will also be ordering genetic tests. The genetics community has spent considerable time pointing out all the potential negative consequences of these testing scenarios. When rearranging deck chairs, the community has neither examined the potential opportunities of the paradigm shift nor crafted a cohesive response.

The genetics community is now suffering from a self-inflicted identity crisis because of its own success: the identification of the genetic causes of disease. This exchange of letters indicates that this is the time for reassessment, reorganizing, and redefining the profession.

Traditionally, the majority of patients in a genetics clinic are in search of a unifying diagnosis. However, I predict that the genetics clinic of the future will look very different. The “in search of diagnosis” patients will become a smaller proportion as other indications become more common. The new “typical” patients will be as follows:

• Healthy adults asking, “What am I at risk for based on my family history? Based on the results of my genome scan? What should I be doing based on these risks?”

• My child has this test result indicating a complex condition Z. Our family doctor says that you are best able to manage it.

• I have genetic condition Y, which was diagnosed when I was a child. Is there anything new I need to know about?

These new patients with new questions provide new opportunities for the genetics community, but only if we recognize this as an opportunity rather than an infringement on our territory. We must welcome these developments and aid in their implementation. How can we do this? I can make some suggestions. I am sure there are numerous others if the clinical genetics community would come together to embrace the possibilities. Potential suggestions are as follows:

• 1 Lobby to get electronic pedigree drawing tools embedded into electronic medical records. This will enable the primary care physician (or the patient himself) to complete the family history before the genetics appointment. Not only does this save time in the genetics appointment but also ensures that only those families appropriate for counseling would be referred to the geneticist by the primary care physician, who would have already reviewed the pedigree. Enabling any health care provider to easily view a pedigree as a routine part of a medical record will enable and increase its use.

• 2 Educate the geriatricians and adult medicine community about the need for genetic testing. Because testing for late-onset diseases becomes available, it will be critical to test the clinically diagnosed affected individuals first to provide informative results to the rest of the family for possible future testing for them.

• 3 Create a web-based “queryable” database of information that directly addresses the variety of results from direct to consumer genetic testing companies. This database could detail which results are actionable and which not. For example, a test that shows that a particular disease risk was doubled at first sounds as if it has clinical utility. However, explaining that the risk for that condition is now two in a million instead of one in a million provides context and clarity. Most importantly, this approach could help to ensure that those individuals who have a result that requires follow-up seek out the genetics provider. By adding the zip code in this database, they could get the closest genetics providers.

• 4 Get out of the “diagnose and adios” mode of thinking. There are patients with complex genetic conditions that affect multiple body systems. These individuals often see a bevy of subspecialists without a genetically knowledgeable continuity provider. Geneticist could play a unique role by being the maestro of this orchestra. Also, by moving into more of a “coordinator” role, geneticists will be able to provide longitudinal care to affected patients by providing continuing counseling to children as they transition into adulthood. It will also allow geneticists to keep families apprised of the latest developments in research and treatments; a field that is poised to grow exponentially.

I realize that these activities may not generate the adrenaline rush of making a diagnosis missed by others. Nevertheless, there are still important contributions to be made using these new models. Reluctance to adapt to and embrace new developments in the medical landscape can lead to obsolescence. Let's get on with making the most of these new opportunities for the benefit of patients and geneticists.