Why I Love Designer Babies, Part Deux

Last month, Kathryn Hinsch started a lively discussion in her post, "Why I Love Designer Babies" -- this month, New Scientist editor Michael LePage adds fuel to the debate on genetic selection:

Fears over 'designer' babies leave children suffering

MADELINE Kara Neumann, age 11, died of diabetes because her parents prayed rather than taking her to doctors. Caleb Moorhead, age 6 months, died after his deeply religious vegan parents refused a simple vitamin injection to cure his malnutrition. The list of children killed by their parents' superstition or wilful ignorance is a long one.

Most people are rightly appalled by such cases. How can parents stand by and let their children die instead of doing all in their power to get the best medical care available?

Yet this is precisely what society is doing. We now have the ability to ensure that children are born free of any one of hundreds of serious genetic disorders, from cystic fibrosis to early-onset cancers. But children continue to be born with these diseases.

All would-be parents should be offered screening to alert them to any genetic disorders they risk passing on to their children. Those at risk should then be offered IVF with pre-implantation genetic diagnosis (IVF-PGD) to ensure any children are healthy.

Why isn't it happening? Because most people still regard attempts to influence which genes our children inherit as taboo. When a fertility clinic in Los Angeles recently offered would-be parents the chance to choose their child's eye colour, for instance, it provoked a storm of criticism that forced the clinic to reconsider

Such fears are misplaced: IVF-PGD is little use for creating designer babies. You cannot select for traits the parents don't have, and the scope for choosing specific traits is very limited. What IVF-PGD is good for is ensuring children do not end up with disastrous genetic disorders.

Nearly 150 years after Darwin unveiled his theory of evolution, we have yet to grasp one of its most unsettling implications: having diseased children is as natural as having healthy ones. Every new life is a gamble, an experiment with novel gene combinations that could be a brilliant success or a tragic failure.

Thanks to technology, we are no longer entirely at the mercy of this callous process. Rather than regarding this ability with suspicion, we should be celebrating it and encouraging its use. Instead, we continue to allow children be born with terrible diseases because of our collective ignorance and superstition. That makes us little better than the parents of Madeline and Caleb.

-- Original article can be found here, subscription may be required.

"Cancer-free" baby born in UK: what's wrong with this picture?

So: today's news reports that the first "cancer-free" baby has been born.

"What's this?" you ask. "Isn't it awfully rare for babies to have cancer?" Yep. Especially breast cancer, which is more common in older women. But the genetic test to identify known breast-cancer-causing mutations has been around for some time. Now, for the first time, it has been used as a prenatal test--technically, in this case, through preimplantation genetic diagnosis (PGD), which is testing embryos conceived through IVF prior to their being implanted in the uterus.

Certain rare BRCA mutations greatly increase a woman's risk of breast cancer and ovarian cancer--so much so that some women with these mutations decide on prophylactic surgery to remove their breasts and ovaries. However, because these really bad mutations are rare, experts recommend that only women with a strong family history of breast cancer pursue testing. The news story doesn't say whether the couple had such concerns, though presumably this is the case.

Stories like this one don't help the general public understand what genetic testing can and can't do. Even BRCA results are probabilistic: not everyone who has a positive result will go on to develop breast cancer. And there are prophylactic and curative treatments available for breast cancer (though they are, obviously, pretty awful). And who knows what the state of medicine and oncology will be by the time the BRCA mutation carrier born today is old enough to worry about breast cancer?

The opposite set of concerns plays in here too; the fact that this fetus happens not to have any of the mutations that have been shown to increase breast cancer risk does not guarantee that she won't get breast cancer anyway -- presumably there are causal factors we don't know anything about yet, since the vast majority of breast cancer is not due to one of these familial syndromes -- or any of the other zillions of cancers that afflict humankind. "Cancer-free" may be a misnomer in this case.

And finally, isn't there a morally relevant difference between choosing to terminate a pregnancy because of a positive diagnostic result (eg, Tay-Sachs, Down syndrome) and choosing to do so based on a measure of susceptibility? And no hate mail please: I don't mean to imply that the former sort of case is necessarily the right thing to do...only that some such choices might be more easily justified than others.

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.

Smart advice re genetic testing

Today's Newsday includes this fantastic op-ed by Wylie Burke, an ethicist and medical geneticist at the University of Washington, and H. Gilbert Welch, a primary care doc and researcher at Dartmouth. (Full disclosure: I work with Wylie and think the world of her. Read the editorial, and you'll have an inkling of why that is.)

Dr. Welch is also the author of a wonderful book, Should I Be Tested for Cancer? Maybe Not and Here's Why that provides lots more information about the ways in which "predictive" testing and population-level screening can create problems for patients.