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Tagged: genetics

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The Havasupai Indians, Genetic Research and the Problem of Informed Consent

Researchers can gain significant genetic information by studying indigenous and preferably isolated populations. Although both researchers and indigenous populations can gain from this collaboration, the two  groups often do not see eye to eye.  This was the case of the collaboration between the Havasupai Indians and researchers from Arizona State University, which resulted in a long legal fight. The Havasupai Indians were suffering from high prevalence of diabetes and agreed to give their blood samples for genetic research on Diabetes. The members of the tribe were infuriated when they found out later that their blood samples were used for other purposes, among them genetic research on schizophrenia.

The New York Times reported yesterday that this conflict resulted in a settlement in which Arizona State University agreed to pay $700,000 to the tribe members and also return the blood samples. The Havasupai Indians’ main legal claim was of violation of informed consent. Informed consent requires that patients and research subjects receive full information that will enable them to decide whether to adopt a certain medical treatment plan or participate in research. Here, the Havasupai Indians argued that the informed consent principle was violated because they were told that their blood samples will be used for one purpose while, in fact, they were used for another.

No doubt, the Havasupai Indians informed consent argument resulted in their victorious settlement. But, the harder question is whether informed consent principle can be feasibly applied  in the area of genetics.  Genetic information is not just individual information it also provides information about groups and families. For example, assume there is a tribe in which some members agree to participate in genetic research investigating Manic Depression.  Other members of the tribe refuse because they are concerned that a result showing that there is a prevalent genetic mutation for Manic Depression among them could stigmatize them and even lead to discrimination against the tribe. The researchers collect samples only from the members of the group who agree to the research. But,  the results  still provide genetic information on all members of the tribe even those who refused to participate because of their genetic connection to those who participated. 

The result in the Havasupai settlement cannot be seen then as a victory for the principle of informed consent in the area of genetics. Restricting genetic researchers to use of samples only for the purpose for which they were collected only partly resolves the informed consent problem. The group nature of genetic information makes the application of informed consent to genetic research much more complicated than that.

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23andMe – Has GINA Failed to Live Up to its Promise?

 23andMe is a genetic testing Internet site, which offers testing for over 100 genetic diseases and traits as well as ancestry testing. Many viewed 23andMe as the vehicle, which will bring genetic testing to the masses. It was promoted by “spit parties”  in which attendees spat into a test tube to have their saliva analyzed to produce their genetic profile. Yet, recently the New York Times reported that two and half years after it commenced service 23andMe has not attained its expected popularity. The report tied 23andMe’s lack of popularity to the limited usefulness of genetic information – genetic science’s inability to predict with certainty that a person is going to get sick.

And true, genetic science is all about probabilities. A genetic test can rarely predict with a 100% certainty that a person will incur a disease. I doubt, however, that this limitation is holding 23andMe back. Unfortunately, people are not very good at understanding the statistical results of genetic testing.  If anything, a woman who is told that she has a 60% of getting breast cancer is likely to dismiss the actual statistics and believe she is going to get sick. It is quite unlikely that people decided not to use 23andMe because of the low probabilities that accompany many genetic tests’ results.

Instead, fears of genetic discrimination likely played an important role in 23andMe’s failure to popularize genetic testing. People are afraid that if they undergo genetic testing and receive positive results they may lose their health insurance or their employment. As I have documented, these fears prevail although empirical data shows that genetic discrimination is in fact rare. Consequently, many individuals are inhibited by genetic discrimination concerns and choose not to undergo genetic testing.

Recently, the government enacted a relatively comprehensive federal law against genetic discrimination – the Genetic Information Nondiscrimination Act of 2008 (GINA). An important goal in legislating GINA was to alleviate fears of genetic discrimination. It was hoped that the enactment of a comprehensive federal law will provide a sense of protection and reduce genetic discrimination anxiety.  The failure of 23andMe to attain widespread popularity indicates that at least so far GINA has not been as successful as was hoped in quieting fears and encouraging the use of genetic testing technology.

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BRCA1/2 Gene Patents Invalidated: Is it Finally about the Patient?

Earlier this week a district court in a dramatic decision invalidated BRCA 1/2 – two breast cancer gene patents held by Myriad Genetics. The Court based its decision on patent subject matter analysis holding that since the isolated DNA covered by Myriad’s patents is not markedly different from the native DNA as it exists in nature, it qualifies as a product of nature, which is not patentable subject matter.

No doubt, as commentators have noted (here and here), this decision if not overturned or limited on appeal could carry broad ramifications for the future gene patents. But, this decision signifies also a change in strategy in the efforts to restrict gene patents – a focus on the patient.

As I have written, most of the debates on gene patents addressed the way that gene patents affect genetic research – the concern that granting patents on the building blocks of genetic science will hinder the development of more complex innovations. Unsurprisingly, most academic proposals and legislative bills address the innovation problem. The effects on the patient until now took a back seat.

This lawsuit against Myriad signifies a change in that it finally places the patient and the administration of genetic testing at the center of the stage.  Although the Court’s holding focuses on patent subject matter the court dedicates a significant part of the opinion to access to BRCA1/2 genetic testing. Myriad charges about $3,000 for testing an exorbitant amount compared to other genetic tests. Furthermore, Myriad does not allow other laboratories to conduct the testing – all samples have to be sent to its headquarters in Salt Lake City. The opinion tells the stories of women who were unable to test to find out whether they carry the BRCA1/2 genes because Myriad would not accept their insurance. It recounts the ordeals of women who could not get definitive answers through Myriad’s testing and were precluded from seeking testing elsewhere. It underscores that women were unable to get a second opinion of the test results because tests are conducted only by Myriad. It also discusses the efforts of doctors and laboratories who were willing and able to offer BRCA1/2 testing but were precluded by Myriad from conducting the testing. 

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