Letter to the Editor

Abstract

In response to: Howard HC, Borry P: Direct-to-consumer genetic testing: more questions than benefits? Personalized Med. 5(4), 317–320 (2008).

Dear Editor:

The article ‘Direct-to-consumer testing: more questions than benefits‘ disputes the value of direct-to-consumer genetic services, defined as companies that offer “direct access or ordering of genetic tests without the intermediate of a healthcare professional”. My company, DNA Direct (CA, USA), is referenced in the article, but does not fit the authors‘ explicit definition of direct-to-consumer genetic services because we operate under the same clinical protocols, licensure and regulations as any ‘brick-and-mortar‘ clinic. The authors noted (correctly) that we employ genetic counselors and offer telephone-based genetic counseling with all of the medical genetic tests that we facilitate. In addition to our counselors, DNA Direct has a Medical Director – an MD geneticist – who oversees all of our clinical cases and authorizes all test orders.

In addition, the authors misleadingly imply that DNA Direct may inappropriately promote testing for purely monetary gains. DNA Direct does not mark-up the price of any genetic test that it offers, and therefore does not profit from test sales. The company receives fees from the delivery of genetic counseling services, which may or may not be associated with a test. Furthermore, like any healthcare provider, the integrity of our clinical service delivery is essential to DNA Direct.

DNA Direct‘s protocols are designed to help individuals to pursue testing only when it is appropriate. Throughout the history of our company, 34% of individuals who tested with DNA Direct tested positive for the mutation in question. In marked contrast, positive mutation rates in a large reference laboratory are approximately 7–10%. This statistic clearly demonstrates that we are meeting our goal of appropriately delivering services to individuals who will most benefit from a genetic test. For those individuals, we enable access to genetic expertise, testing services and genetic information, delivered in proper context, that can help to guide more informed healthcare decisions between them and their healthcare team.

Response from the authors

To begin, we are pleased that DNA Direct has taken the time and effort to participate in this debate. Any step made to help clarify the services offered by direct-to-consumer (DTC) companies can only stimulate much-needed reflection on this topic.

Regarding Ms Phelan‘s comments, first of all, she objects to having been referenced in our article when she states that DNA Direct, as a company offering genetic testing services, does not fall into the category of companies offering “direct access or ordering of genetic tests without the intermediate of a healthcare professional”. We agree that it is important to clearly distinguish between the various companies that currently provide DTC genetic services. However, DNA Direct still falls under our definition, since it does advertise genetic tests through the internet directly to potential consumers. Moreover, having “medical genetics staff, under the oversight of our MD medical geneticist, … review your pretest questionnaire and/or pretest consultation and authorize your test” [101] is not equivalent to having a face-to-face discussion with your doctor. Furthermore, standard use of telephone genetic counseling instead of face-to-face contact with patients also makes the services of DNA Direct clearly different from the genetic services that are offered through a healthcare professional in the traditional healthcare system.

Second, Ms Phelan states that we “misleadingly imply that DNA Direct may inappropriately promote testing for purely monetary gains”. Although this is a controversial issue on many levels, we stand by the legitimate and serious concern that any health service based on a for-profit context has a risk of enouraging consumers to purchase unnecessary services. Previous research findings suggest that financial incentives in pr-ivate specialty hospitals altered the frequency of use for an array of procedures [1].

Third, in response to the specification that “34% of individuals who tested with DNA Direct tested positive for the mutation in question”, we think it would be more informative and beneficial if companies offering DTC genetic services were simply transparent regarding this raw information (i.e., the number and type of individuals who apply for tests, and the number of individuals who undergo testing and test positive) rather than providing selected processed data.

Finally, to its merit, DNA Direct‘s website does offer a plethora of information regarding the disorders for which testing is offered, and a good amount of accessible information on genetics. However, this does not replace pretest counseling with a trained genetic counselor certified by the relevant board (i.e., in the USA, the American Board of Genetic Counseling). Although DNA Direct does apparently offer post-test counseling with all tests, it only requires pretest counseling for breast and ovarian cancer risk, infertility and recurrent pregnancy loss. Meanwhile, the genetic counseling guidelines published by EuroGentest, a EU network of excellence, are clear that both pre- and post-test counseling should be performed [102].

In conclusion, although we welcome Ms Phelan‘s contribution to this debate, we remain convinced that in the present regulatory context, DTC genetic testing services still pose potentially more harm than benefit for the average consumer.