genetics and disease

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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Employee tests nondiscrimination in employment

The following story describes the first known case testing GINA, the Genetic Information Non-discrimination Act:

Will Washington Enforce the Genetic Non-Discrimination Act? (http://www.inthesetimes.com/working/entry/6065/will_washington_enforce_the_genetic_non-discrimination_act/)
Monday, June 7, 1:21 by Lewis Maltby

First-ever case tests 2008 law banning employers from discriminating based on workers' genetic profiles

Pamela Find didn't want to make history; she just didn't want to die of cancer. But when her employer fired her because she carried a gene linked to breast cancer, Fink became the first American worker to file an official federal complaint under the Genetic Information Non-Discrimination Act (GINA), which Congress passed in 2008.

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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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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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"Voice" your opinions about genetic technology

Hsien-Hsien Lei of the Eye on DNA blog recently asked readers to define genetics in one simple sentence. I tried, with the following:

Genetics is the study of the operating instructions for life.

To this could be added: Scientists look at how the instructions are passed from one generation to the next, how instructions differ from one living thing to another, and how the instructions work.

For a "young" audience, something modern--operating instructions--could be useful. Note that the second sentence distinguishes the various components of genetic study: inheritance, form, function.

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