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Moving forward on genetic testing

Scott_shreeveThree months ago,
there was a huge hubbub about genetic testing in California. In a
dramatic effort, albeit totally misguided, the California Department of
Health sent “cease and desist
letters to multiple vendors who were offering genetic testing services
directly to the consumers. They were concerned by the cost, the
accuracy, the ability for medical professionals to interpret the
results, and the potential for harm to the consumers. However, with
many technology advances that outpace the regulatory apparatus, this
one was well ahead of its time and when the dusts settles, this type of
testing will become a normal part of your health portfolio.

Need proof?

This week Microsoft, Scripps Health (based in San Diego), Affymetrix and Navigenics
announced they are launching a research study to evaluate the impact of
personal genetic testing. The study will offer genetic scans to up to
10,000 employees, family and friends of Scripps Health system and will
measure changes in participants’ behaviors over a 20-year period.
Participants will be able to save a copy of their genetic information
and analysis in HealthVault, enabling them to retain it for future use
as they continue to manage their health and wellness, whether it is for
preventative or treatment purposes.

From Cease and Desist, to a public announcement from all California
based companies on a landmark longitudinal study with 10,000 people
validating the use of personal genetic information in just over three
months?

Stylin’ and profilin’ Cali Style.

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9 replies »

  1. About 5% to 10% of breast cancer cases are reported to be hereditary. In these cases, the disease run in the families and directly results from mutated genes inherited from a parent. Genetic cancer testing has become a popular means of knowing whether or not you have cancer in your genes. But before you go for such a test, it is important to have a basic understanding about the test and its consequences.

  2. Genetic testing is a name that encompasses many different aspects in the medical community. Genetic testing can provide information to enable early disease detection, identify individuals at increased risk of specific conditions and the potential of certain individuals to pass on conditions to their children. However, along with this knowledge come psychological, behavioral and financial risks that could result in increased distress and anxiety. The ethical issues that arises from genetic testing is what to do with the information obtained from these tests. We are able to identify several gene mutations that may result in a genetic disorder but we do not always have the ability to treat the disorder. Also, who would be allowed access to this information? While genetic testing has great potential for diagnosing and/ or preventing genetic diseases it is clear we need strict guidelines on how we utilize this information.

  3. Information from genetic testing can affect the lives of individuals and their families. In addition to personal and family issues, genetic disease or susceptibility may have implications for employment and insurance. Therefore, careful consideration in the handling of this information is very important.
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    Cristal
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  4. In strong agreement with previous posters in that the actually science as to the efficacy of DNA testing is still way off the map in terms of ability to determine susceptibility to a given disease/condition.
    Granted, the science is moving quickly, but the DTC DNA businesses are way pout in front of knowledge among physicians and consumers, heck even among researchers. While it is good to see support for research such as this, aso find it a bit ironic that those supporting it are shall we say, in it for the money.

  5. You’ve got to love it when folks make predictions about the very things that research is actually trying to prove. I’m sure there’ll be interim progress studies long before the 20 years up, but until we have the *first* study’s actual results in hand, it is way too premature to suggest that genetic testing is anything a mainstream consumer should even be considering at this point. It’s just smoke and mirrors, with the information provided virtually useless to make actionable health care decisions.

  6. Agree with the previous commenters; I found this post a bit “I-told-you-so.” The science must be there first before advances in patient health ensue.

  7. The DNA theory of cancer (a limited number of genes causes cancer, so cancers are more or less the same) hasn’t yet produced the types of breakthroughs we all want. Most everyone in cancer research seems to have centered their attention on DNA being the culprit.
    It would be expected that after spending so many years of pursuing this one angle, and the numerous links that have been made, this should have lead to more progress than is presently observed. There is always a cytogenetic and a biochemical individuality in every cancer.
    Growing evidence suggests that gene-based prediction is not stable and little is known about the prediction power of a gene expression profile as compared to well-known clinical and pathologic predictors. Cancer prognosis from a handful of genetic mutations that drive a cell into uncontrolled growth, has failed many aspects of cancer.

  8. The point of a trial is to test a hypothesis. It is good they are doing this study–but I could generously fund an outreach that would alert people to risks, counsel, etc., and then follow for salutary changes. Maybe even more cheaply.
    We’ll see what happens, 20 years is a longtime and I am not naysaying, but your post is a bit tilted. The existence of these tests and their use in a scientific experiment hardly makes them “godl-standard” yet. It is good though, folks are thinking about them however.

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