Did anyone actually read GINA (Genetic Information Nondiscrimination Act) before lauding it for protecting the public or condemning it as over-regulation?

From GINA at The Library of Congress:

Prohibits a group health plan from requesting or requiring an individual or family member of an individual from undergoing a genetic test. Provides that such prohibition does not: (1) limit the authority of a health care professional to request an individual to undergo a genetic test; or (2) preclude a group health plan from obtaining or using the results of a genetic test in making a determination regarding payment. Requires the plan to request only the minimum amount of information necessary to accomplish the intended purpose.

So, according to this:

1. Health plans can require the results of a genetic test to make a decision regarding payment.
2. Assuming having one’s genome available to make medical decisions makes health care more effective and efficient, premiums cannot be adjusted to account for the savings.

Um, isn’t this is the worst for both effective health care and patient fairness? Doesn’t this mean that health plans can simply demand any genetic test when deciding payment (and hold that decision hostage to get that test… and what if a decision is urgent)? Doesn’t this mean that health care will be institutionally less effective because rather than instituting a single, preventive genomic test to be consulted to make better medical decisions for one’s entire life(which GINA makes illegal), instead, patients will only get ad-hoc and myopic genomic tests as demanded by health plans for payment decisions? Won’t this make health care less effective while creating a new market for inefficient, interventionist specialty genomic tests?

So, what happens when a project like the Coriell Personal Medicine Collaborative shows that using genomic personalized health care makes health care better and cheaper?

I’m embarrassed that I relied on the hype surrounding GINA and didn’t read the law to form my own opinions.

Further, if I’m right about this (I want to consult a lawyer),  I’d be deeply embarrassed for the journalists and industry representatives who should have noted this rather than publishing fluffy, feel-good fed PR. Hypothetically. I’m going to get a legal opinion before I start stomping around, naming names, and posting links!

First, thanks for the great comments about my Coriell PMC post yesterday.

“To use the Coriell service you have to actually walk in the door. If you’re not in the neighbourhood then it may be easier and cheaper to use 23andMe.”

Right, but that’s because Coriell have no incentive to rush to seize a market. Coriell could mail their saliva oragene collection kits and probably, eventually will. Remember, Coriell is an international biobank. It’s their business to send and receive biological samples by mail.They don’t because requiring participants to physically visit their office carefully limits the scale of their program. Coriell will probably be forced to send kits by mail to achieve their goal of 100,000 participants.

Further, for the $2500 cost of a Navigenics test, a better, free, declaratively medical test from Coriell is worth the daytrip and flight for the majority of people. The same is true for a $1000 23andMe or deCODEme test. Come on, this isn’t some fire sale at some outlet store in Kansas, this is an expensive medical test.

“Coriell will not give you access to your raw data, only their interpretation of items that they consider ‘medically actionable.’”

So? I don’t get back the raw data of any other medical tests I take. If you just want a SNP sample of your genome because it’s cool, go buy a 23andMe or deCODEme test. That’s like getting an x-ray because you “want to see what your bones look like.” OK, some people may want to do this… and hey, I bought a 23andMe test for this reason… but most people aren’t choosing their x-ray test provider based on whether they get to keep their x-rays.

“The author is naive if he thinks that this initiative is going to wipe out all the for-profit ventures in this arena.”

No, of course DTC genomic companies aren’t going to be immediately wiped out. People will continue to buy DTC genomic tests, and most of the fly-by-night competitors have already been swept away by regulatory scares.

The problem is that DTC genomic companies aren’t profitable. They are investment-funded companies. (deCODE is a public company, but it too has never been profitable and operates by spending investment.) To raise additional capital to continue operation, these companies must convince investors that they will earn a return on their investment. However, given the Coriell PMC, investors must be convinced despite that

• The current market price of a genomic test has dropped from $1000 to $0 for the first 100,000 customers.
• The government has proved that will fund competing efforts to offer the same services and perform the same research. These efforts will use superior, better established institutional resources and have no obligation to return capital.
• (BIGGEST) The existing medical research establishment has proved that it will conduct its own genomic services and research rather than work with venture-funded startups like Navigenics.

Especially for Navigenics, the idea is that these tests will eventually be medical information to be used by doctors and purchased by pharama companies. That is the investment. Unfortunately, the Coriell PMC is a political statement that clearly states: “No, we don’t want or need your company. We will provide these ourselves, we will undermine the market for your genomic data by conducting the same research better than you can, and we’re not going to help you.” This is FAR worse than the former two points because it extends to hypothetical genomic products like sequencing, not just SNP set tests. Otherwise, one could make a credible argument that the Coriell PMC will prime the genomic testing market with government money, and once the project concludes, a company like Navigenics would be ideally suited to serve that market (assuming it was well-enough funded to weather the government-sponsored “free trial.”)

“Actually, GINA says that insurers/employers cannot request or require that you take a genetic test. So discrimination based on *not* having a test is still illegal.”

This merits its own post (coming)…

Guest post by Paul Jaffe, MAADDSG@aol.com; coordinator, Manhattan Adult Attention Deficit Disorder Support Group; New York, NY, USA. [7/17/08]

Recently, gene-therapy researchers — who have had their ups and downs — scored a point: the restoration of some vision to patients with retinal degeneration [1,2].

To effect this, they used a generally harmless adeno-associated virus (AAV). The goal was to deliver, to the retina, a functioning copy of a defective gene thought to trigger the illness. This viral “vector” was injected through a surgical procedure deemed reasonably safe.

Within gene therapy, AAV vectoring – which may soon turn a corner [3] — is now standard. This includes a well-publicized effort [4,5,6] — and a less-publicized effort [7] — to treat Parkinson’s Disease.

Unlike the above, which might be termed corrective gene therapy, the PD applications are closer to compensatory gene therapy. Here, the aim is to alter the brain so as to mimic a treatment several steps removed from an underlying pathology.

In each PD clinical trial, a gene has been inserted to encode a specific enzyme. These are:

• glutamic acid decarboxylase (GAD), which catalyzes the synthesis of the neurotransmitter gamma-aminobutyric acid (GABA); and
• human aromatic l-amino acid decarboxylase (AADC or hAADC), which does the same for dopamine (DA).

The vectors are known, respectively, as the AAV-GAD and the AAV-AADC.

The PD research might — or might not — succeed. (One vector is in US Phase II testing; the other, in Phase I.) The question here is: might either be used elsewhere? … Continue Reading »

At last! My pleas for expensive social validation has been noted!

23andMe Customer Gathering
Dear Andrew ,

We’re pleased to invite you to the first 23andMe Customer Gathering!

This is your chance to meet other 23andMe customers, share your experiences about the Personal Genome Service, and give us feedback on what you’d like to see next.

You’ll also have the opportunity to meet the developers and scientists of 23andMe so you can ask questions about your account and learn new ways to explore your data.

Yet, God must frown on my genomic shanagans because I will be visiting my family this week back east and I’ll be unable to attend. I tried to tell my mother: “Mom, I have to go to this company party! It’s for genomics, you know, DNA. It’s really cool. There will be light refreshments!” but I think she just rolled her eyes and asked me if I had a girlfriend.