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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.
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