Consumer Genomics and Personalized Medicine

by Dr. Hsien-Hsien Lei
Posted March 24, 2008 in DNA and Disease

Pharmaceutical companies are searching through their dusty shelves and archives to find drugs in abandoned pipelines that may be potentially effective in groups of people defined by their genetic make-up. The Wall Street Journal reports that personalized medicine is gathering speed:

While the markets for these therapies are smaller than for those that treat the general population, pharmaceutical companies are realizing there are hefty profits to be made because patients are more likely to use, and stick with, a tailored medicine that works better than a one-size-fits-all drug.

Of course, personalized medicine is dependent upon genetic information to succeed. Prior to consumer genomics, access to genetic testing was limited to those who could find a genetic counselor or medical geneticist within a reasonable physical distance. With the Internet and DNA technologies combined, however, it is now possible for patients to develop a personalized medicine strategy with the help of in-house genetics experts at companies that offer consumer genomics.

Even at this early stage of consumer genomics and personalized medicine, consumers can already use genetic information to prevent or treat disease either in themselves or their offspring. Pharmacogenomics is particularly useful for helping patients and their physicians determine treatments and dosages that are the most effective yet with the fewest side effects. Consumers can access many of the genetic tests with or without the help of their personal physician via companies that offer direct-to-consumer genetic testing*. Some of these companies offer genetic counseling services and other resources to help consumers understand their test results and take action. Others, such as nutrigenomic companies, also sell supplements that purportedly address perceived genetic deficiencies.

In one of this month’s JAMA commentaries, Drs. Feero, Guttmacher, and Collins list the following obstacles confronting personalized medicine:

1. Not enough information on prevalence and risk conferred by genetic markers across population groups
2. Unclear inheritance of multiple markers and effects on risk of disease
3. Incomplete picture of gene x environment interactions
4. Not enough studies on common diseases and effect of interventions based on genetic risk factors
5. Limited evidence of benefit for personalized medicine esp. when there are no clinical studies
6. Fear of genetic discrimination

The authors conclude that education of health care professionals and the general population is necessary. Despite all the news about developments in genomic technology, consumers still have much to learn. The key to helping consumers decide which genomic services they need and which are nice to have, but not necessary, is to empower them with information.

Within the decade, genetics experts predict that genome sequencing will no longer feel like a breakthrough and costs will drop to about $1,000 per genome. Point-of-care or point-of-use handheld devices will make it even easier to incorporate consumer genomics into medical care. These portable machines will be able to analyze whole blood in the clinic and deliver genetic testing results within minutes. Other portable machines would be targeted to consumers for personal use and would possibly contain data from an individual’s complete genome linked to a database of relevant disease information that can be easily updated via the Web. Jay Flatley, CEO of Illumina, already has his “genotype” on an Apple iPhone.

The intersection between consumer genomics and personalized medicine is about more than breakthroughs in technology. It is also about a change in the way consumers approach healthcare. Consumers may lead the way by first accessing genomic technology on their own then sharing their genetic information with healthcare providers later on a need-to-know basis. Or they may wait for qualified genetics professionals to take the lead. No one knows exactly how consumers will embrace genomics and personalized medicine when they become part of standard medical care. There is no doubt, however, that the trickle of consumer genomics will soon grow into a torrent. Are we prepared?

*Disclosure: I work with DNA Direct.

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3 Comments

Comment by SCG

2008-03-24 22:38:51

It is worrying how personalized medicine might become a consumer’s medicine. I think companies can too easily take advantage of unprepared citizens in the field of genomics. The clinical genetist can be the only trustworthy link between the patient and what the technology offers. What kind of professionals would “in-house genetics experts” be?

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Comment by Hsien-Hsien Lei, PhD

2008-03-24 22:49:20

If you think about it, SCG, all medicine and healthcare are utilized by consumers.

As for genetics expertise, it varies by company. DNA Direct has genetic counselors on staff who are available by phone or email. One of our genetic counselors also moderates the MedHelp genetics forum.

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