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Wash. state to tell families about genetic studies of fatal birth defects

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Wash. state to tell families about genetic studies of fatal birth defects

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TIMES WATCHDOG | Washington state health officials say they’ll start telling families who’ve lost babies to a devastating birth-defects cluster about genetic studies aimed at decoding possible causes.
The Seattle Times
Saturday, December 26, 2015

Health officials investigating a rise in fatal birth defects in Central Washington say they’ll start telling families who’ve lost babies about ways to share DNA that might help pinpoint a cause.

Researchers with the Washington state Department of Health (DOH) plan to go back to 17 women already interviewed in connection with the defects to inform them about studies of anencephaly, a disorder in which a baby develops in utero missing most of the brain and skull.

They’ll also tell women they interview going forward, said Dr. Kathy Lofy, the state health officer.

“While we cannot share the names and contact information of women who have had a baby with anencephaly, we would be happy to let women know about genetic research that is occurring around the country in case they are interested in participating in a study,” Lofy said in an email.

The move follows a Seattle Times report that found DOH officials may have missed opportunities for answers about what’s causing a spike in birth defects in Yakima, Benton and Franklin counties.

Since 2010, 41 women have lost babies to anencephaly, a rate about five times higher than the national rate.

Officials have not contacted all of the women affected by anencephaly and have not collected samples or conducted tests that could reveal genetic or environmental links to the problem.

DOH officials say that they have convened a panel of experts and pursued all avenues available to them as they undertake the always-challenging task of investigating a cluster. Cathy Wasserman, the epidemiologist leading the effort, noted DOH is a “state health organization, not a research organization.”

That’s a position echoed by Gov. Jay Inslee, who said through a spokeswoman that he had discussed the birth-defects investigation with state health officials.

“DOH has reassured him that they have structured their investigation according to national guidelines and are taking this very seriously,” spokeswoman Jaime Smith said in an email.

“The governor welcomes more research, but things like genetic testing is not something state or local health departments do,” she added.

Those efforts would be undertaken by the Centers for Disease Control and Prevention (CDC), the National Institutes of Health (NIH) or a university or foundation that would “have the resources and capacity” for such an investigation, the email added.

“I do wonder whether the implication that DOH should be expected to conduct a level of research that is outside its purview is fair,” Smith said.

DOH officials said this month they will begin notifying the families about research, including the largest study of the genetics of anencephaly in the world, being conducted at Duke University.

The study, which began in May 1993, aims to collect DNA samples from parents and fetuses or infants to help determine genetic factors associated with neural-tube defects such as anencephaly.

Led now by Allison Ashley-Koch, a genetic epidemiologist, the study aims to enroll 10,000 people by May 2020, according to details at,a site run by the National Institutes of Health. But Ashley-Koch said researchers hope to collect as many participants as possible and to extend the research as long as possible to help provide insight into the neural-tube disorders.

The causes of anencephaly are not known. A lack of folic acid, a B vitamin necessary for growth and development, is believed to play a role, along with obesity and diabetes. Hispanic women are more likely to have pregnancies affected by neural-tube defects.

Research indicates that one possible factor may be a mutation in the MTHFR gene, which tells the body to make an enzyme necessary to convert folic acid into a usable form. Biological samples are necessary to investigate that link.

Ashley-Koch said she offered to help the CDC and Washington state officials collect samples and investigate the cluster two years ago, but was refused. She said she no longer has the original email confirming her offer. Federal and state officials said they didn’t recall receiving it.

This month, however, Ashley-Koch reached out to Cathy Wasserman, the state epidemiologist leading the Washington investigation. Wasserman will review the research, Lofy said. Wasserman responded and was “very collegial,” Ashley-Koch said.

It’s not clear which families would be able to participate in the Duke study. The research requires blood samples from both parents and a sample of fetal DNA, either from cord blood, fetal tissue or amniotic fluid.

With pregnancies that have occurred in the past, such fetal samples may no longer be available. Hair snips probably would not provide enough fetal cells to be useful, Ashley-Koch said.

[This story was originally published by The Seattle Times.]

Photo credit to kiril pipo via Flickr