Genetic Testing

Thinking Genomically

If ever there were an area of medicine that is appropriate for lifelong learning, it is genomics, the study of the functions and interactions of all the genetic material (DNA) belonging to an organism, including interactions with environmental factors to understand the root causes of disease and to better understand how an organism works. Because it is a young and quickly evolving field, it is difficult to precisely determine either the genomic knowledge or the clinical application of that knowledge that will be required for healthcare providers in the future. 

What is clear is that the practice of "genomic medicine" will require the implementation of educational tools by which the health-care workforce can begin to shrink the gap between genomic knowledge and its application to patient care.  Eric Green, the current Director of the National Human Genome Research Institute at NIH, puts a fine point on the tremendous potential of genome knowledge to affect the future of health care when he writes, "Primary care providers are the front lines in what will have to be an integrated and collaborative model for using genomic advances to enhance patient care."

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What does GINA mean?

A comment to one of my blog entries on genetic testing asked whether genetic testing would affect life insurance rates. My response pointed out the first GINA challenge to employment discrimination and referenced a personal refusal for long-term care insurance based on family history. 

Note that my answer ddidn't address the question. I've since checked further into the details and learned the following--which I should have remembered:

GINA's provisions prohibiting discrimination in health coverage based on genetic information do not extend to life insurance, disability insurance, or long-term care insurance. For example, GINA does not make it illegal for a life insurance company to discriminate based on genetic information. In addition, GINA's provisions prohibiting discrimination by employers based on genetic information generally do not apply to employers with fewer than 15 employees. For health coverage provided by a health insurer to individuals, GINA does not prohibit the health insurer from determining eligibility or premium rates for an individual based on the manifestation of a disease or disorder in that individual. For employment-based health coverage provided by group health plans, GINA permits the overall premium rate for an employer to be increased because of the manifestation of a disease or disorder of an individual enrolled in the plan, but the manifested disease or disorder of one individual cannot be used as genetic information about other group members to further increase the premium. GINA also does not prohibit health insurers or health plan administrators from obtaining and using genetic test results in making payment determinations. 

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I just sent for a genetic test--now what?

In the light of recent developments in the genetic testing arena, individuals are wondering what to do if they have ordered a test. Akira! news, in a well-written staff article, asks "Should you test your genes?"

Like anyone else, Dr. Rachel Zahn loves a deal, so when a friend e-mailed her a link to an internet site offering $99 genetic testing — usually it costs $499 — she figured, “Why not?” and sent away for the test.

Now she’s thinking — Why?

Zahn is having, if not buyer’s remorse, at least some very strong doubts about the wisdom of her decision to get genetic testing. “I did it out of curiosity,” she says.

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FDA finally steps up to the plate

I no longer work in the pharmaceutical industry, so I no longer have to fear backlash if I say negative things about the FDA. I also feel that we Americans expect way too much of this government agency. They're understaffed and underfunded. When I did work in the industry, I had chances to review and comment on their work and found most reviewers to be careful and detailed in their review of New Drug Applications. I never worked with medical device approvals. 

Since genetic testing was offered online for consumers, the FDA has been saying that the tests are being offered by individual labs and are thus "home brews", not medical devices, and do not need to enter the FDA approval process. Now, the view has changed and the FDA has sent major players letters telling them they need to justify not getting medical device approval. 

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Beware of Genetic Testing

Here's a piece from the Philadelphia Inquirer, written by Arthur Caplan, May 21, 2010, that you might find interesting:

Type "genetic testing" on an Internet search engine and then hang on. You will be in for quite a ride. There is an endless parade of companies touting genetic tests for everything, including determining whether your kid has the potential to be a star athlete, finding out whether your ancestors were kings or ne'er-do-wells, finding a date, optimizing your diet, or knowing what diet to use if your intake is not optimal. Apparently, there is more self-discovery to be had by spitting your saliva into a cup and sending it off to be genetically analyzed than in a whole month of Dr. Drew.

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what's in the Walgreens genetic test?

Walgreen's decision to temporarily withhold plans to sell a DNA test in its stores is presumably based on interference from the FDA. However, there's no requirement to have DNA tests approved by the FDA. None of the tests sold by other companies are FDA approved, and the FDA has been consistently saying that these "home brew" tests are not regulated by the FDA.

So, what's going on?

Who knows?

Meanwhile, if you want to know what the test does, check out the following link:  You should find it interesting. 

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Pathway/Walgreens: Collect your DNA--$20 -$30; test your DNA--extra!

Wow--this is fantastic! For only $20 to $30, you can purchase--at Walgreens later this month--a saliva sampling kit (a couple of cotton swabs, aplastic container, label, postage-paid envelope, instructions). Great, now what?

For an additional fee of $79 to $249, you can actually have the DNA tested. 

In part because on-line offers of genetic testing kits have not gleaned much business, Pathway Genomics--a new company--will test the drug store market, hoping to make their money that way. 

Are you interested? Consider that the company is linked with Walgreens, so the data collected can be used to market treatments and drugs for the diseases supposedly being tested for. I say "supposedly" because we now know that nearly all disease tests touted in these direct-to-consumer products are actually determined by many factors, both genetic and environmental. The "answers" you get may or may not affect your future health--but will likely affect your emotional and psychological health, and will definitely affect your pocketbook. 

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Privacy and DeCode Genetics Bankruptcy

I'm naive, I admit, but I still have the right to expect some privacy in this American life--if not for me, perhaps for my children. So, I've always wondered what would happen when a genetic testing company folded. DeCode genetics--collector of many, many genetic profiles of Icelanders--is doing just that. Here's a comment from I've left in the hyperlinks for your use.

DNA Testing Firm Goes Bankrupt; Who Gets the Data?: Via Threat Level.

An Icelandic firm that offers private DNA testing to customers has filed for bankruptcy in the U.S., raising privacy concerns about the fate of customer DNA samples and records, according to the Times of London.

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Contrary to popular belief, body cells in a human may not all have the same DNA

According to an article in Science Daily, 15 July 2009, "research by a group of Montreal scientists calls into question one of the most basic assumptions of human genetics: that when it comes to DNA, every cell in the body is essentially identical to every other cell."
The original report of the results appears in the July issue of the journal Human Mutation.
The article continues:

This discovery may undercut the rationale behind numerous large-scale genetic studies conducted over the last 15 years, studies which were supposed to isolate the causes of scores of human diseases.

Most body samples used in large-scale genomic studies are saliva or blood. If these samples have DNA that doesn't match genetically to cells in the diseased or affected tissue--which this report suggests is likely--then, the samples may not tell us "the truth" about the DNA makeup responsible for the disease being investigated. Thus, "ambitious and expensive genome-wide association studies may prove to have been essentially flawed from the outset."

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Gee, what are GWAS?

Perhaps you've been reading in the news lately about genes "for" autism, obesity, cancer, sudden heart attack . . . . . . and on and on.

What are all these reports about? 

Most of the reports you see are based on genome-wide association studies, or GWAS. You pronounce this acronym: gee wahs.

The genome, by the way, is the full set of DNA (the inherited material) in a human, mouse, yeast, or whatever is being studied. In most interpretations, genomics--the science of genomes--includes the study of environmental as well as genetic information. However, GWAS are usually studies of the DNA of large populations of people with disease X compared with 1) people who don't obviously have the disease or with 2) some sort of DNA standard.

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