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Screened out?

Science | 'Preconception genetic testing' is growing, but it could have terrible consequences

Issue: "Tick, tick, tick ...," May 7, 2011

An advisory commission has given British government officials two thumbs up to the nation's increasing practice of "preconception genetic testing." As opposed to tests that directly check a fetus for genetic disorders, preconception screening identifies couples whose children would have a heightened risk of inheriting a disorder from mom and dad. Until now, such testing has been directed toward particular at-risk population groups.

Genetic diseases may appear in offspring when both parents carry a relevant genetic mutation, even if the parents aren't sick. If the parents, for instance, carry mutations for cystic fibrosis, a debilitating condition that shortens life expectancy, each of their children will have a 25 percent chance of suffering from the disease. Genetic mutations are one reason why close relatives shouldn't marry, and why risk increases in ethnically distinct populations: Ashkenazi Jews are susceptible to Tay-Sachs disease, and African-Americans have an increased risk for sickle cell anemia. In the island nation Cyprus, where one in seven adults carries a mutation for beta thalassemia, a serious blood disorder, couples must undergo genetic screening and counseling before receiving a marriage license.

The report by the Human Genetics Commission, an advisory body to the UK government, recommended expanding the availability of voluntary preconception testing and counseling, and requiring that older children be taught about the procedure in school.

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That possibility raises several ethical issues. One is whether couples who learn their offspring have an increased risk of a genetic condition will be more likely to abort.

Another is whether preconception testing will nudge society toward censuring couples who choose to carry handicapped children to term or who have a conviction against family planning. The commission acknowledged the possibility: "Parents may also come to be expected to bear more personal responsibility for having a child with [a genetic] condition if they are seen, in effect, as having chosen not to avoid it." Is it a couple's responsibility to prevent the conception of children where a genetic risk is involved, or is that God's business?

There's also the possibility that young people whose test results indicate they could pass down a serious genetic mutation will be stigmatized and become "unmarriageable," warned David King, director of the British watchdog Human Genetics Alert.

Trends in Europe are sometimes a bellwether for trends in the United States: In 2001 the American College of Obstetricians and Gynecologists recommended that preconception cystic fibrosis screening be offered to high-risk couples-Ashkenazi Jews and other Caucasians. In March the group recommended the screening for all women, whatever their ethnicity.

Steadfast heart

Heart disease is the top killer of Americans, but Utahans are less likely than average to die from it. Doctors at the annual meeting of the American College of Cardiology suggested that monthly Mormon fasting may explain why Utah's heart disease rates are low. The doctors, from the Intermountain Medical Center Heart Institute in Salt Lake City, found that 24-hour fasting temporarily increases human growth hormone and cholesterol levels, and said the body begins burning fat instead of glucose during fasts-lowering cholesterol and heart disease risk in the long run. Some outside experts were unenthusiastic, though, and said more research is needed on the subject.

Daniel James Devine
Daniel James Devine

Daniel is a reporter for WORLD who covers science, technology, and other topics in the Midwest from his home base in Indiana. Follow Daniel on Twitter @DanJamDevine.

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