They say "It's All In The Genes" but do I really want to know?????

The Coriell Personalized Medicine Collaborative
“It’s all in the Genes: Researchers Uncover your Genetic Profile”


Would you really want to know what is down the road for your health?

Genome Profiling Project…..This innovative science takes a sample of my saliva and tests the DNA for certain genes that are associated with specific diseases. Some prominent healthcare institutions are taking part in this groundbreaking project. Healthcare facilities such as Fox Chase Cancer Center, Virtua Health Care, and Cooper Medical Center have thrown their hats in the ring on this one.

I have some concerns about this. Let me tell you about them:

Accuracy: Who says these tests are accurate? Have we done any studies up until now that prove that these tests would be reliable? Would I be worrying unnecessarily about a disease that I may never acquire?

Confidentiality: The Coriell Institute for Medical Research seems to have solved this issue by keeping participants’ medical data in an anonymous form to protect their privacy. There is absolutely no way a person’s identity could be revealed? (heard that one before!)

What if there is no diabetes gene, can I still get diabetes? Or….can I err on the side of probability of not getting it based on the absence of a specific gene?

What does it mean if they find a gene that is “medically actionable”?
According to what I’ve read the genetic makeup that will be revealed will be on that which is “medically actionable”. In other words, if there is no cure for the disease (or treatment) then it will not be revealed to the participant? So I won’t know if I am a potential candidate for Alzheimers?

What about the future? Some experts say that this will be standard at birth and that everyone will have a genome mapped at birth and it will be part of your medical record. Although they also state that physicians will need to have a patient’s permission prior to accessing the data.

It’s a win-win situation according to Dr. Dwyer from Virtua Health Care. Dwyer states that “the physician is more attuned and patients would be more engaged because they now know they have a risk. That combination can change behavior” (or kill a person with worry).

This is obviously not for everyone. I am actually considering becoming a participant in this groundbreaking study. The thing that is holding me back is when I go to hit that key to tell me if I have the genetic makeup to develop diabetes, will I worry myself right into a full blown case of diabetes? My other reservations are that I’m downright frightened that what I may find out may be more than I want to handle at any given moment. Life is hard enough dealing with our every day stressors. Now, knowing that I could develop breast cancer, heart disease, etc. down the road will just add more to my stress level and then I’ll probably just have a massive heart attack and it will be over anyway….so what’s the point?

For more information on this project, go to www.coriell.org.

Gene testing for Breast Cancer: Hype or Hope?

WBP supporter and personable pundit Art Caplan explains in his most recent MSNBC column that biotechnology firms hope to cash in on women’s fear of the disease:

Fear of breast cancer has created a tempting market for companies to sell genetic testing directly to consumers. The disease kills 40,000 people a year in the U.S., with an estimated 212,920 new cases diagnosed in 2007, according to the Mayo Clinic.

It’s no wonder women would want a reliable gauge of their risk. However, American women should be aware that genetic tests for breast cancer are more hype than real hope.

On Wednesday the biotech research company Decode Genetics of Reykjavik, Iceland, announced it will sell a new test for $1,625 that it claims will allow women “to assess their personal risk for the common forms of breast cancer.”

Genetic testing for all sorts of conditions is all the rage these days. Everywhere you turn, some company is urging you to spit in a cup, take some blood or swab your cheek so your DNA can reveal your health risks, know who your long-dead ancestors are, pick the right mate or help you design a diet that is perfect for your genetic makeup. But, “spitomics” has gotten way ahead of genomics.

Sadly, the tests Decode and other companies are offering are more likely to empty family pocketbooks and leave women with a false sense of security than they are to prevent breast cancer. There is simply not enough federal and international regulation in place to determine which tests are accurate or how heredity interacts with lifestyle to create individual risks.

If the Food and Drug Administration and Congress do not rein in the corporate greed that is currently driving the sale of genetic tests for breast cancer and other diseases and conditions, we could soon have an industry that bears an uncanny resemblance to the home mortgage business.

Marketing for genetic tests is already ubiquitous. The television commercials and magazine ads, which ran in Denver, Atlanta and various cities in the Northeast, promise women that cancer does not have to be “inevitable." They also claim that the average woman can reduce her risk of developing cancer through genetic testing.

Myriad Genetics, the Salt Lake City biotechnology company behind the heavy ad push, charges about $3,000 for a complete risk-disposition test. Myriad, which holds a patent on the first breast cancer test, has been taking full advantage of the genetic testing monopoly it enjoyed until Wednesday when Decode entered the market with its new, more generalized test. To date, Myriad has been very tough about enforcing the patent, even though medical centers in the United States and other countries say they could do the same testing for a much lower cost.

Only small fraction would benefit
In reality, the numbers about detectable risk don’t really back up Myriad’s ad claims.

Of the more than 200,000 new breast cancer cases, only about 20,000 seem to be connected to the BRCA1 and BRCA2 genes — the genes most closely linked to the inherited form of the disease that Myriad’s test can detect. For women without a family history of the disease, perhaps 1 percent would benefit from the test.

On one hand, it would seem to make sense to seek out genetic testing to avoid becoming a breast cancer statistic. Or does it?

Contrary to the marketing messages, only women who have a strong family history of breast cancer — two or more parents, grandparents or siblings who have developed the disease — need to talk to their doctor or a genetic counselor about the value of any form of genetic testing.

Decode’s newer test is not really accurate enough or based on a large enough sample of women to accurately predict much about an individual woman’s chance of getting breast cancer.

If you are worried about your risk of getting the disease, or are thinking about getting a genetic test done for any other reason, talk with your doctor or a genetic counselor who can determine whether your family history justifies the expense. You may be surprised to find that you can make changes in lifestyle and monitoring your own health that can reduce your risk without testing.

The genetic revolution holds much promise for improving our health. Currently, profit and market advantage are playing the key roles in shaping how genetic testing is evolving. These are not the right navigation tools to help women at risk of breast cancer — or the rest of us — capture that promise.

Arthur Caplan, Ph.D., is director of the Center for Bioethics at the University of Pennsylvania.

Original article can be found here.

The Week in Review

1. Sex bias in control of cancer pain. Women get less meds, more pain. Sounds like a Raw Deal.

2. AAAS comments on human subject protection training.

3. Gardasil requirement for immigrants stirs backlash.

4. Paxil suit settled by Glaxo for $40M.

5. Inspire Pharmaceuticals reaches deal with SEC in investigation related to clinical trial of experimental dry-eye treatment.

6. Chinese parents file tainted milk lawsuit.

7. Personalized medicine: new predictive tool can help determine treatment for breast cancer patients (identifies those most at risk of relapse, potentially avoiding chemo).

8. Doctors urge the FDA to ban OTC cough and cold medicines for children until they are found safe and effective. Not safe and effective? Perhaps we should resort to that cherry-flavored placebo elixir reported on in these very pages a few weeks back, eh?

9. Impact of expanded newborn screening in the US.

10. "Friendly" bacteria protect against Type 1 diabetes. Ah, friendly, protective bacteria. Such a nice change from those drug-resistant ne'er-do-wells.

11. Secrets revealed! Penicillin bug genome unraveled.

12. Scientists find gene pathway that triggers the spread of melanoma.

13. Researchers find yet another new source of multipotent stem cells—in the walls of blood vessels.

14. How best to schedule downtime for ERMs (Electronic Medical Record Systems) . *Is* there any good time for the records to be unavailable?

15. No more excuses! Health clubs gear programs for those with ailments.

16. Faster genetic test for flu virus approved in the US.

17. Genentech warns about PML (progressive multifocal leukoencephalopathy—a rare brain infection) death in a patient taking Raptiva for psoriasis.

18. European drug makers urge regulators to impose price controls. I know, this sounds counterintuitive, but you'll see, it's not (seriously).

19. NIH announces funding for new epigenomics initiative.

20. FDA grants 510(k) clearance to I-Flow for topical wound dressing that controls oxygen and moisture. I'd like to see this thing. How does it manage all that? I'm thinking of robo-bandage here.

AND in the category of "Weird News":

21. Tainted candy from China found in US: White Rabbit Creamy Candy. Yes, that's the actual name of the candy. Is it me, or does it sound oddly sinister? Or perhaps I read "Alice in Wonderland" one too many times as a kid. Darn, now I have Jefferson Airplane's song "Go Ask Alice" stuck in my head.

22. If bioterrorists strike, letter carriers might deliver antibiotics. Neither rain, nor snow, nor anthrax spore . . . Wait a minute, weren't these the guys who were targeted with the anthrax in the first place?

23. Experts call for warning labels on energy drinks. Apparently, these things are so chock full o' caffeine that they deliver quite a blast, and people aren't really aware of just how much caffeine they're loading up with. Gives me the shakes just thinking about it.

[Thank you to Lisa von Biela, JD candidate, 2009, UMN, Editor of the BioBlurb, from which this content is taken and edited. BioBlurb is a weekly electronic publication of the American Bar Association's Committee on Biotechnology, Section of Science & Technology Law. Archived issues of the BioBlurb, as well as further information about the Committee on Biotechnology, are available here.]

Bringing the genome home ... but why?

This story in the Washington Post gives a decent overview of the growing number of firms out there who promise to improve our lives by giving us insight into our individual genetic profiles. Current players who offer screening include 23andme, Knome (which its founder, Harvard geneticist George Church, wishes we would pronounce "know-me"). Then there are those who claim to provide genetically-based information or advice, ranging from ScientificMatch.com (your DNA is used to find you a suitable date) to Genelex (which offers a mishmash of testing options, ranging from diet advice to predictive testing for periodontal disease) to Navigenics (which claims, "your genes offer a road map to optimal health"). I'm not even going to get into the outfits that offer to trace individuals' ancestry.

Here's a fact about all these businesses: not a one of them is subject to FDA oversight. So all these claims about health benefits, etc., resulting from their services can be completely false (or at least, not based on evidence), and nothing can be done about it. If you read even a *tiny* bit of the scientific literature on genetics and "personalized medicine," you will be struck by how few experts make such claims, at least for the near term. Instead, they talk about the promise of genetics ... while acknowledging that there's an awful lot we don't know. (Along these lines, see this commentary from last week's issue of the Journal of the American Medical Association, featuring none other than the head of the National Human Genome Research Institute.) Bottom line? Given that most health conditions and risks seem to be multifactorial, involving multiple genetic factors as well as environmental influences that we don't yet understand, this stuff is a long way off.

In the meantime, though, consumers should be protected from grossly overstated or unproven claims. Whether that falls to FDA or to someone else (though the Consumer Protection Agency probably has enough work to do at the moment -- lead paint in toys, anyone?), it seems to me the Feds ought to step up on this one.