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| Research News |
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| Friday, March 26, 2010 |
Focus On: Direct-to-Consumer Genetic Tests
Ethically informed decision-making to be aided by public database
Creation of Genetic Test Registry will be an important first step in improving transparency and quality for consumers and clinicians
A March 10 online news story reported that U.S. scientists have, for the first time, sequenced the genome of an entire family. On the same web page, a short advertisement for a direct-to-consumer (DTC) genetic test company promises to give “you the fastest path to discovery.”
And just below it, another ad for personalized DNA sequencing boasts: “easy, fast, visuals and analysis. Quick Results. Request a Quote Now.”
As science and technology press on, the amount of information that these genetic testing firms can promise increases—while their price tags drop. But the pace of commercialization has thus far kept ahead of the oversight needed to help consumers put those promises in perspective—especially those claiming to give people more control of their health with scientific insight into their genetic makeup.
Now, help may be on the way. The National Institutes of Health last week announced it will establish a voluntary registry for DTC genetic test providers and is encouraging them to participate when the database launches next year.
“It is important that people make informed decisions about whether to undergo genetic testing or not,” said Joan Scott, a certified genetic counselor and director of the Berman Institute’s Genetics and Public Policy Center, in Washington, D.C. “But they can only do that if they have access to current, accurate and balanced information.”
Although the center has called for the creation of a mandatory registry for several years, it is applauding the NIH announcement as an important first step toward increasing the quality and transparency of the widely available services.
More than 1,600 genetic tests are now available, and they often return complicated results that are difficult for consumers to use as a basis for decisions about disease treatment and prevention—or even whether or not to have children. Among the most well known genes that tests target are BRCA1 and BRCA2, which, when mutated, are linked to increased risk of breast and ovarian cancer.
The U.S. National Library of Medicine characterizes DTC tests as those “marketed directly to consumers via television, print advertisements or the Internet.” The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn.
 Well-known genetic-testing companies Navigenics and 23andMe—both in California’s Silicon Valley—charge between $400 and $1,000 to scan sections of a customer’s DNA for single nucleotide polymorphisms (SNPs). Pronounced “snips,” SNPs are variations of DNA base pairs that may indicate a predisposition for dozens of diseases, traits and drug reactions.
In a recent
article
in the Washington Post, experts said that leading companies seem to be upfront about the limitations of their findings, and that they include extensive Q & A sections and disclaimers online. Geneticists added that results must also be tempered by the fact that lifestyle and environment can trigger an otherwise dormant genetic predisposition.
But because results are sent directly—by mail, phone or online—companies urge consumers to contact a doctor or genetic counselor who can decipher the data, put information in context and answer questions. Some firms have licensed genetic counselors on staff to help customers interpret the results.
Government agencies such as the Food and Drug Administration and Federal Trade Commission, as well as professional organizations such as the American College of Medical Genetics, have issued cautionary consumer advisories. But buyer-beware recommendations are not law.
Ethically informed decision-making to be aided by public database
Creation of Genetic Test Registry will be an important first step in improving transparency and quality for consumers and clinicians
A March 10 online news story reported that U.S. scientists have, for the first time, sequenced the genome of an entire family. On the same web page, a short advertisement for a direct-to-consumer (DTC) genetic test company promises to give “you the fastest path to discovery.”
And just below it, another ad for personalized DNA sequencing boasts: “easy, fast, visuals and analysis. Quick Results. Request a Quote Now.”
As science and technology press on, the amount of information that these genetic testing firms can promise increases—while their price tags drop. But the pace of commercialization has thus far kept ahead of the oversight needed to help consumers put those promises in perspective—especially those claiming to give people more control of their health with scientific insight into their genetic makeup.
Now, help may be on the way. The National Institutes of Health last week announced it will establish a voluntary registry for DTC genetic test providers and is encouraging them to participate when the database launches next year.
“It is important that people make informed decisions about whether to undergo genetic testing or not,” said Joan Scott, a certified genetic counselor and director of the Berman Institute’s Genetics and Public Policy Center, in Washington, D.C. “But they can only do that if they have access to current, accurate and balanced information.”
Although the center has called for the creation of a mandatory registry for several years, it is applauding the NIH announcement as an important first step toward increasing the quality and transparency of the widely available services.
More than 1,600 genetic tests are now available, and they often return complicated results that are difficult for consumers to use as a basis for decisions about disease treatment and prevention—or even whether or not to have children. Among the most well known genes that tests target are BRCA1 and BRCA2, which, when mutated, are linked to increased risk of breast and ovarian cancer.
The U.S. National Library of Medicine characterizes DTC tests as those “marketed directly to consumers via television, print advertisements or the Internet.” The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn.
Well-known genetic-testing companies Navigenics and 23andMe—both in California’s Silicon Valley—charge between $400 and $1,000 to scan sections of a customer’s DNA for single nucleotide polymorphisms (SNPs). Pronounced “snips,” SNPs are variations of DNA base pairs that may indicate a predisposition for dozens of diseases, traits and drug reactions.
In a recent
article
in the Washington Post, experts said that leading companies seem to be upfront about the limitations of their findings, and that they include extensive Q & A sections and disclaimers online. Geneticists added that results must also be tempered by the fact that lifestyle and environment can trigger an otherwise dormant genetic predisposition.
But because results are sent directly—by mail, phone or online—companies urge consumers to contact a doctor or genetic counselor who can decipher the data, put information in context and answer questions. Some firms have licensed genetic counselors on staff to help customers interpret the results.
Government agencies such as the Food and Drug Administration and Federal Trade Commission, as well as professional organizations such as the American College of Medical Genetics, have issued cautionary consumer advisories. But buyer-beware recommendations are not law.
DTC genetic testing
Scott, along with GPPC research scholar Gail Javitt and former center director Kathy Hudson—who was appointed chief of staff and senior advisor to the director of the NIH last year—have been pushing for increased regulatory oversight of DTC companies for years.
“Without a system in which an upfront expert evaluation can be made with respect to the validity of genetic tests, it will be difficult if not impossible to make rational decisions about who can and should order the test and receive the results, and what claims are appropriate in advertising,” the center stated in an issue brief from 2006.
Two weeks ago, the center released updated charts of DTC genetic testing companies, one sorted alphabetically by name, and the other by disease. The charts are available on the GPPC website, http://www.dnapolicy.org/, and will be included in a report soon to be submitted to the Secretary of Health and Human Services.
Scott served on the Secretary’s Advisory Committee on Genetics, Health and Society, which produced the report. It includes recommendations for regulating DTC genetic test companies and will be presented to Secretary Kathleen Sebelius in a few weeks.
~ by Michael Pena
NIH Genetic Test Registry
Genetics and Public Policy Center
“
Genetic tests give consumers hints about disease risk; critics have misgivings
” (Washington Post, Jan. 26, 2010):
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