Category: Policy


The FDA held a meeting on March 8th and 9th about direct-to-consumer (DTC) genetic testing. According to the FDA’s executive summary, DTC is:

…clinical genetic tests that are marketed directly to consumers (DTC clinical genetic tests), where a consumer can order tests and receive test results without the involvement of a clinician.

As Dan Vorhaus of the Genomics Law Report describes it, the main issue of the meeting was to decide how (and if) the FDA will regulate DTC genetic tests. There were really two perspectives:

1. Those who oppose DTC genetic testing worry that incorrect or misinterpreted tests could produce harmful outcomes, and they even questioned whether anything of value is actually gained from the tests in the first place.

2. Those who support DTC genetic testing argue that the information empowered patients to explore their “genetic selves” without any ill effects.

The meeting will sum up with recommendations for the FDA from the Molecular and Clinical Genetics Panel (MCGP), which is an FDA committee that “reviews and evaluates data concerning the safety and effectiveness of marketed and investigational in vitro devices for use in clinical laboratory medicine including clinical and molecular genetics and makes appropriate recommendations to the Commissioner of Food and Drugs.” Vorhaus suspects that the MCGP will recommend:

that clinical (as defined by the FDA, which is itself a separate issue) direct-to-consumer genetic testing, when offered without a requirement that a clinician participate in the ordering, receipt and interpretation of the test, be removed from the marketplace. At least for the time being.

Our keynote speaker, John Hawks, blogs about this issue and considers himself a “genetic libertarian.” He describes his position:

I believe that I have a fundamental right to my own biological information. What I mean is that, if anybody has biological information about me, I should be able to access and use it. Additionally, I think it is immoral for anyone to charge me excessive rates to access my own information. So that’s where I’m coming from. I’m a genetic libertarian. 

For more info see the FDA’s website for the event.

What do you think about DTC genetic testing? Do you think it’s a good idea? How much regulation (if any) should be provided by government agencies?

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Continuing with our exploration of the vignettes in Science’s 10th anniversary celebration of the human genome project, we run across an interview with Eric Green, who just recently became the director of the National Human Genome Research Institute. As with all of these pieces, there’s lots of interesting stuff here. A couple of highlights from the interview:

Q: Why did you set 2020 for when genomics will begin affecting health care? Why is it going to take so long?

Eric Green: When we talk to people who have a historic view of medical advances, they have pointed out that truly changing medical care takes a substantial amount of time. Often decades. And I’ve grown sensitive to the criticisms of genomics by some who believe that since 2003, when the genome project ended, we haven’t sufficiently improved human health 7 years later. So part of the reason is just to be a little bit more realistic and a little more cautious.  

Q: Where are you hoping we will be by 2020?

Eric Green: I’m hoping that by 2020 we will have this incredible mountain of information about how genetic variants play a role in disease, that it will just provide an entirely new venue for really thinking about how to both predict disease, maybe prevent disease, and certainly treat disease.

Notice that Dr. Green seems pretty confident in our ability to use genomics to predict and treat disease, but puts a “maybe” in front of prevention.

References

Kaiser, J., Green, E. (2011). The genome project: what will it do as a teenager? Science 331: 660.

We’re starting to go through some of the interesting vignettes in Science’s 10th anniversary celebration of the human genome project. One of these papers takes a realistic view of how genomic research has benefited human health over the past 10 years. A few areas that the authors touch on:

1. Identifying risk:  The predictive power of most genetic variants associated with diseases is not very high. This means that the potential benefits of separating patients even into gross categories such as “high” and “low” risk based on the presence/absence of disease-risk genes are in many cases outweighed by the cost of potentially misclassifying (and thus mistreating) them.

2. The difficulty of changing behavior: When someone is told they are at a genetically higher risk of developing a particular disease, there is really no evidence to indicate that they change their dietary or exercise habits (see also this post on the blog). Altering an individual’s environment (regardless of the presence/absence of disease-risk genes) is probably a better, and more lasting, way of convincing them to be less lazy, or to eat better and not smoke.    

3. False hope: Scientists and the press are both responsible for creating false hopes for genomic research in human health.

The authors do suggest that the following are realistic expectations:

1. The genes responsible for most Mendelian disorders will be identified. This will permit quick diagnoses, particularly for diseases that are caused by a single gene. 

2. Pharmacogenomics (the study of the influence of genetic variation on drug response) will enhance the safety and efficacy of treatments. However, because a lot of variability in drug response is tied to non-genetic factors, we can’t expect genomics to completely solve this issue.    

They make the interesting suggestion that because most mortality in high-income countries results from things like smoking, sedentary behavior, and excessive food and alcohol consumption, the diseases associated with these factors are best (or at least as effectively) researched via the social and behavioral sciences (i.e., how do we change these behaviors?) rather than through genomics (i.e., how do we identify individuals at genetic risk for these diseases?).  

References

Evans, J.P., Meslin, E.M., Marteau, T.M., Caufield, T. (2011). Deflating the genomic bubble. Science 331: 861-862.

UPDATE 2.23.2011. Dr. Hawks blogs about this issue here.

We’ve talked about SNPs (single nucleotide polymorphisms) before on the blog. These are mutations in single bases along the DNA molecule. Because it has been found that some SNPs are associated with particular diseases, geneticists scan genomes to identify SNPs that may either explain a disease or at least identify individuals that may be at risk for a disease. As described in a recent report in Reuters, one unintended consequence of these genome scans has been the identification of incest. As many of you know, the development of abnormalities in offspring is more common in incestuous (i.e., mating with a close relative–how “close” is “close” varies by culture)  matings. Because closely related individuals share a greater proportion of their genes, the chances are greater that deleterious recessive genes (genes that are only expressed when an individual has two copies, one from either parent) will pair up in their offspring and cause problems.

Although this new information of course has important legal implications, in most cases the physicians were already aware of the incestuous relationship.

References

Schaaf, C.P., Scott, D.A., Wiszniewska, J., Beaudet, A.L. (2011). Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet 377: 555-556.

Can (and should) genes be private?

Matthew Herper of Forbes.com has posted an interview with Misha Angrist, who is the author of “Here is a Human Being: At the Dawn of Personal Genomics.” The jumping off point here is that Angrist participated in an experiment where not only was his genome sequenced, but it was made public. From there, the interview touches on three things:

1. It’s really cool to be able to see your own sequence data right in front of you.

2.  In the not-too-distant future, everyone is going to go through full-genome sequencing.

3. Can, and should, genome data be kept private and anonymous?

Angrist also provides a guest post on the blog Genetic Future in response to a paper in Trends in Genetics. The paper outlines the arguments for, and against, returning genetic data to research participants. The authors take the view that if (and only if) something “life threatening and actionable” is found within an individual’s genome, researchers have the moral obligation to say something but full disclosure is not recommended because it puts full sequence data in the hands of research participants. You can read Angrist’s guest post, but his stance is revealed by a great quote from the Forbes.com interview: “Genetics is too important to be left to geneticists.”

Do you think that complete sequencing data should be fully disclosed to research participants? Would you make your genome public? For more discussion and to participate in a poll, check out The personal genome project, genetic privacy, personal medicine on the blog.

References

Angrist, M. (2010). Here is a Human Being: At the Dawn of Personal Genomics. Harper: New York.

Brendenoord, A.L., Kroes, H.Y., Cuppen, C., Parker, M., van Delden, J.J.M. (2011). Disclosure of individual genetic data to research participants: the debate reconsidered. Trends in Genetics 27: 41-47.

An interesting story by Osagie K. Obasogie of the Huffington Post discusses proposals to lower the bar for collecting and keeping the DNA samples of individuals arrested (but, as we shall see, not necessarily convicted) of crimes. For example, David Paterson, the Govenor of New York, has suggested a law whereby the state DNA database would include not only individuals arrested for felonies but also some individuals that were convicted of misdemeanors. Another example:

[T]he United States House of Representatives recently passed legislation that creates millions of dollars in incentives to encourage states to mandate taking DNA samples from individuals arrested for (but not necessarily charged with or convicted of) certain crimes. This provision (H.R. 4614) is part of the Katie Sepich Enhanced DNA Collection Act of 2010, named after the tragic rape and murder of a young New Mexico woman. The bill provides a 5% bonus in federal money granted to states under a justice assistance program for “minimum DNA collection,” which includes taking DNA samples from felony arrestees of specified major crimes. A 10% bonus would be given to states that partake in “enhanced” collection, which includes the extra step of taking DNA from those arrested for specified lesser crimes. 

As Obasogie points out, this may lead to a situation where the DNA of innocent people is stored along with that of the guilty. For more information on this and other bioethical issues, visit the Center for Genetics and Society

What do you think of the government holding on to the private and sensitive information that is potentially held in an individual’s DNA profile? Does this impinge on civil liberties? 

UPDATE 2.1.2011. A law that will expand the collection of DNA in North Carolina will go into effect on Feb. 2, 2011. Read more at WUNC.