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Ideas and Opinions |

Why We Should Care About What You Get for “Only $99” From a Personal Genomic Service$99 Personal Genomic Service

Michael F. Murray, MD
[+] Article and Author Information

This article was published online first at www.annals.org on 11 February 2014.


From the Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania.

Potential Conflicts of Interest: None disclosed. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M13-2804.

Requests for Single Reprints: Michael F. Murray, MD, Genomic Medicine Institute, 100 North Academy Avenue, MC 26-20, Danville, PA 17822; e-mail, mfmurray1@geisinger.edu.

Author Contributions: Conception and design: M.F. Murray.

Analysis and interpretation of the data: M.F. Murray.

Drafting of the article: M.F. Murray.

Critical revision of the article for important intellectual content: M.F. Murray.

Final approval of the article: M.F. Murray.

Administrative, technical, or logistic support: M.F. Murray.

Collection and assembly of data: M.F. Murray.


Ann Intern Med. 2014;160(7):507-508. doi:10.7326/M13-2804
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This commentary discusses issues surrounding direct-to-consumer genetic testing. It urges physicians to insist on data-driven testing and seek a health care infrastructure for the delivery of effective genome-based patient care as the number of valid uses for genomic data increases.

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A direct-to-consumer test customer's opinion
Posted on February 14, 2014
David L. Keller, M.D.
disabled member of ACP
Conflict of Interest: None Declared
I am an internist and a 23andMe customer. I paid $25 for their genetic test kit several years ago as part of their campaign to identify a cohort of Parkinson disease (PD) patients carrying the LRRK-2 gene. In return, I received an extensive genetic report, as part of which I learned that LRRK-2 is not the cause of my PD. I therefore was not included in the LRRK-2 research cohort, but its findings may very well help the vast majority of PD patients who do not carry that mutation. I participated for several years in other online research projects conducted by 23andMe, which helped to define the natural history of PD and correlate it with the findings in their large genetic database. As a result of their research, a number of new mutations have been discovered to be associated with PD (1). The FDA’s action has shut down this valuable research effort, along with the direct-to-consumer genetic testing service.

As a PD patient, I discussed my 23andMe genetic profile with my treating neurologist, and I requested that he include it on my chart. My main concerns as a patient are:

1) Are my genetic test results accurate, as reported by 23andMe ?

2) Are the reported statistical associations with diseases accurate ?

It is appropriate for the FDA to monitor the accuracy of test results and associated interpretive data supplied by direct-to-consumer genetic test providers. However, the FDA should not hold test providers responsible when consumers misuse this data for unintended purposes, such as for adjusting their warfarin dose without INR testing, or as a substitute for recommended cancer screening tests or regular medical care.

To address the clinical scenario posed in the editorial, here is what I would do if an asymptomatic patient came to my office with a direct-to-consumer genetic test positive for a mutation conferring elevated risk for Crohn’s disease. First, I would reassure him that having a genetic variation associated with increased risk of a disease does not mean that disease will necessarily develop, and many people exhibit such variations and live long and healthy lives. I would add that Crohn’s disease, like other immune disorders, exhibits substantial discordance between identical twins, and thus must have significant environmental risk factors (2). Next, I would perform a complete history and physical exam, appropriate for his age and condition and concerns, including careful examinations of his mouth, abdomen, and anus. I would make certain that he was up to date on his colon cancer screening, per the current guidelines. I would discuss the signs and symptoms of Crohn’s disease with him, and give him a stool test kit for occult blood and draw basic blood labs to check for occult anemia and iron and B-12 deficiency, and any basic labs he might be due for. I would tell him that smoking seems to worsen Crohn’s disease, and offer him assistance with smoking cessation. I would ask him to schedule a follow-up visit in a few weeks, and to call me in the unlikely event he developed any of the signs or symptoms of Crohn’s disease. During the intervening weeks, I would study his genetic report and phone a GI colleague for advice. If the patient is at elevated risk of Crohn’s disease, an early diagnosis would allow time for smoking cessation and surveillance to reduce the risk of future fistulas and other complications.

1. 23andMe Parkinson’s disease research results website, accessed on 2/12/2014:
http://blog.23andme.com/23andme-research/23andme-and-parkinsons-past-present-and-future/

2: Orholm M, Binder V, Sørensen TI, Rasmussen LP, Kyvik KO. Concordance of
inflammatory bowel disease among Danish twins. Results of a nationwide study.
Scand J Gastroenterol. 2000 Oct;35(10):1075-81. PubMed PMID: 11099061.
Author's Response
Posted on May 22, 2014
Michael F. Murray, MD
Geisinger Health System
Conflict of Interest: None Declared
I would like to thank Dr. Keller for his thoughtful comments regarding my commentary in Annals [ref 1]. I will attempt to address the three different elements of his comments here: [1] 23 and me Parkinson’s disease (PD) research, [2] FDA jurisdiction and consumer responsibility, and [3] clinical management of a patient concerned about Crohn’s disease risk.
Regarding 23 and me’s PD research efforts, the company’s research has indeed lead to the identification of two new genomic loci associated with PD as reported by Do et al in 2011 (ref 2). Two company spokespersons have confirmed for me that FDA action has not shut down the PD research efforts. While I cannot speak to the accuracy of Dr. Keller’s specific result I would encourage him and other consumers to pursue the questions of “analytic validity” (meaning that a test is positive when a particular sequence is present and negative when it is absent), and “clinical validity” (meaning that the test is positive in people with a given disease and negative in those without the disease and that positive results predict disease and negative results predict its absence) with the 23andme team who have a reputation for being very responsive to customers. There is nothing that I am aware of that calls the published research results into question.
Dr. Keller has suggested that “FDA should not hold test providers responsible when consumers misuse this data for unintended purposes”. While I am not an expert on FDA rules, as I understand their role here, it is to provide oversight to ensure that medical devices are both safe and effective (http://www.fda.gov/AboutFDA/CentersOffices/OfficeofMedicalProductsandTobacco/CDRH/CDRHTransparency/ucm203018.htm). From the FDA letter of 11/22/13 it appears that rather than there being evidence of a lack of safety or efficacy, they simply have not been given enough evidence from the company to make the required determination (ref 3).
Regarding Dr. Keller’s proposed management of my hypothetical clinical scenario, I think it exemplifies the kind of thoughtful and caring approach that an expert clinician can apply to management of a perceived or potential risk. We should all aspire to this kind of deeply engaged response whenever there is an absence of evidence-based approach to a patient concern.
It should be noted that along with the 23andme research efforts that Dr. Keller has called to our attention, there are other parts of the 23andme lists of services that continue to operate including the ancestry services, and the genetics learning resources (https://customercare.23andme.com/categories/20034447-Genetics-Learning-Resources). I am not aware of any updates to the progress of ongoing conversations between FDA and 23andme regarding what Anne Wojcicki refers to as their “healthcare service” (http://blogs.kqed.org/science/audio/consumer-gene-tests-whats-the-future/). It is noted that customers who had health results generated prior to 11/22/13 are reportedly still able to view their reports.
Michael F. Murray, MD
Genomic Medicine Institute
Geisinger Health System
Danville, PA

REFERENCE:
[1] Murray MF. Why we should care about what you get for "only $99" from a personal genomic service? Ann Intern Med. 2014 Apr 1;160(7):507-8. PMID: 24514942
[2] Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A, Eriksson N. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011 Jun;7(6):e1002141. PMID: 21738487
[3] U.S. Food and Drug Administration. Inspections, Compliance, Enforcement, and Criminal Investigations: 23andMe, Inc. 11/22/13. Warning letter. Accessed at www.fda.gov/iceci/enforcementactions/warningletters/2013/ucm376296.htm on 20 May 2014.


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