Newborns tested for genetic diseases. Parents surprised.

05 February 2010

In the United States, genetic testing of newborns for inherited diseases began quietly sometime in the 1960's; the technology of the time, understandably, was in its infancy so it didn't detect a whole lot. Jump forward a half-decade, and you will find that the practice is still going on, plus it's mandatory in every state, and you might not be aware it's been done. Anna Brown gave birth to a bouncing baby girl a while ago (the article doesn't say when), and was understandably shocked when her pediatrician sat her down to tell her that her daughter Isabel carried a gene which put her at risk for cystic fibrosis. The real shocker came when she discovered that the tests were carried out without her knowledge or consent. The pediatrician wasn't the one who ordered the tests, he was only informed of the results by the state of Minnesota. The testing procedures are carried out by the GEnetic and NEwborn Screening Resource Center of the United States or GeNeS-R-US (a cute but tortured backronym, which seem to be all the rage these days). Even more interesting, genetic samples from babies are cryopreserved and archived indefinitely in some states, again without making a public deal out of it. It's possible for parents to ask the state to destroy the archived samples but it's not paticularly easy. There is also the fear that employers could refuse to hire someone and insurance companies could decline coverage to people who have certain genetic proclivities, even though it's been illegal to do so for a half-decade now.

It should be noted, however, that the insurance companies pay for this testing and get a free copy of the results to add to their records. Even if nothing is wrong. Even if you don't necessarily find out the results, for good or for ill.

What really gets some people's goats is that genetic samples can be passed along to researchers in the private sector without the parents being informed. Privacy laws state that the name of the infant must be kept separate from the sample, but that doesn't always happen. Plus, the security of the data systems which hold this information is always a matter of question. Still, the process through which researchers get hold of DNA samples isn't an easy one, and you have to prove how much you really want those samples to get them.

The ethics and legalities involved are under hot debate: in the past couple of years wrongful life lawsuits have begun to appear in the court system because sperm banks have distributed gametes to clients that weren't screened, and the children conceived were born with inherited genetic conditions. The most famous case involves a sperm donor who carries the gene for a disease called hypertrophic cardiomyopathy, which will leave you feeling hale and hearty until an odd combination of factors, which may not necessarily ever come to pass, causes you to fall over dead without warning. The defendant's sperm resulted in the conception of twenty-two children (plus two of his own); one died at age two of HCM, nine positively carry the genetic defect, and two evidence serious left ventricular hypertrophy.

This raises a whole host of thorny ethical questions. Is it ethical for everyone but the parents to know ahead of time what genetic glitches a child is carrying? Is it ethical to terminate a pregnancy because the fetus has better than a 50/50 chance of being born with an inherited disease that could cause them to die without warning? (Countries like Iran have this written into their legal code.) Is it ethical for the state of birth to put a DNA sample of an infant in deep freeze indefinitely for future unspecified purposes without the permission of the parents or donor? What sort of legal precedent does it set that a child born of donated genetic material can track down and sue the donor if they discover that they have a genetic defect? At what point does this cross over into selecting for specific genetic traits, and if it does when will we notice?