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For two years, a bunch of medical geneticists in Maryland and New Jersey sifted through 1,000 different genetic mutations. They looked for cellular changes that are fatal and ones that are treatable. They argued. Eventually, they decided to include close to 600 mutations found in more than 160 diseases in a single genetic screening test that will be available come January.
GenPath Women's Health, part of N.J.-based Bio-Reference Laboratories, announced the new development on Thursday at a meeting of the National Society of Genetic Counselors. GenPath says it is the most comprehensive screen currently offered: in a field of rare diseases, the test distinguishes itself by scanning for 95 disorders that are not screened for by any other company, including obscure tongue-twisters such as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and cerebrotendinous xanthomatosis.
Company officials put a lot of thought into a name for the test, ultimately deciding to call it the Pan-Ethnic Carrier Screen as a way to signal to all women, regardless of ethnicity, that genetic-testing is important for them.
But do all women really need to undergo genetic testing? More than half of pregnant women do some kind of prenatal screening or testing of their fetus, but there aren't readily available numbers on how many women choose to learn if they're carriers for various genetic diseases. The vast majority of women undergo carrier screening based on their ethnic background, although many, regardless of their heritage, are also screened for cystic fibrosis. Traditionally, certain ethnic groups — especially Ashkenazic Jews of Eastern European descent — have been advised to consider carrier screening for various fatal conditions including Tay-Sachs and Canavan diseases.
MORE: A Blood Test Determines a Baby's Sex Earlier than Ever. But at What Cost?
Indeed, GenPath is presenting the new test as a way to level the genetic playing field and expand testing to any woman, anywhere. "There are a good number of ethnicities that have been ignored by genetic testing," says Marc Grodman, CEO of Bio-Reference. "You don't have to be Jewish to have a genetic test. That's why we are calling this a 'pan-ethnic' screen."
In general, say genetic counselors, increased interest in genetic testing is welcome because it encourages women to better understand how their genetic makeup could impact their children. But pregnant women are getting bombarded with options: this is just the latest of a battery of new blood tests that can determine everything from fetal sex to Down syndrome to paternity.
When it comes to genetic testing, in particular, it's important to make sure that any screening is done in conjunction with a genetic counselor who can explain results, review options and offer guidance. "Sometimes that means not testing because the patient would not benefit or is not interested once they have a thorough understanding of the test, the benefits and possible limitations," wrote Karin Dent, president of the National Society of Genetic Counselors, in an email.
The GenPath test will be marketed to physicians, who will then offer it to their patients. It will cost $500 out-of-pocket should insurance companies decline to pay. Ideally, women would be tested before they get pregnant. Should they turn up positive for a mutation, their partner would need to be tested too. If they're both positive for the same mutation, they would have a 25% chance of having an affected baby.
MORE: How Do You Parent When There's No Tomorrow?
GenPath is not the only company working on new prenatal genetic tests. Good Start Genetics of Cambridge, Mass., is initially targeting fertility clinics with its DNA-sequencing test that will allow detection of a larger spectrum of mutations than the current genotyping method. Its cystic fibrosis screen, for example, is more sensitive than any test currently on the market, says Greg Porreca, the start-up's co-founder.
Its test, which should be available sometime next year, will look for about 20 conditions recommended by the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics. GenPath's test, on the other hand, has the potential to identify a host of additional diseases: 3-Hydroxy-3-Methylglutaryl CoA lyase deficiency, for example, is diagnosed when a person can't process an amino acid called leucine. Potentially fatal if untreated, the condition is so uncommon that it's been reported in fewer than 100 people worldwide.
ACOG officials declined to comment on GenPath's test, but its 2008 policy statement advises screening or testing "for a limited number of severe child-onset diseases." The American Pregnancy Association, meanwhile, expressed skepticism about the wide net that GenPath is casting. "Genetic testing historically is only recommended for those identified as at risk," says Brad Imler, the group's president. "We would advise testing because there is a reason to test, not just a hypothetical something-could-be-wrong."
But knowledge is power, argues Grodman, who is convinced that parents would want to know ahead of time about any increased risks in order to be prepared. "The biggest fear about rare disorders is that a baby is born and no one can make a diagnosis," says Grodman. "Just because it's a hard decision and a hard process doesn't mean we should shy away from asking the questions."
Bonnie Rochman is a reporter at TIME. Find her on Twitter at @brochman. You can also continue the discussion on TIME's Facebook page and on Twitter at @TIME.
This Tuesday, Oct. 4, 2011 photo shows Debbie Wingard in her office at the University of California-San Diego where she is a professor. Wingard has had breast cancer twice and has been unable to conceive which she believes is due to her mother's use of the drug DES during pregnancy. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Lenny Ignelzi)
This Wednesday, Oct. 5, 2011 photo shows Jackie White in Branchville, N.J. White, a breast cancer survivor and a DES daughter who lives in Centerburg, Ohio, north of Columbus, said she had a misshaped uterus and reproductive problems, and found a lump last year that turned out to be breast cancer. Tests showed 20 tumors in one breast, two pre-cancers in the other and spread to her lymph nodes. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Julio Cortez)
This Tuesday, Oct. 4, 2011 photo shows Debbie Wingard outside the Stein Clinical Research building at the University of California-San Diego where she is a professor. Wingard has had breast cancer twice and has been unable to conceive which she believes is due to her mother's use of the drug DES during pregnancy. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Lenny Ignelzi)
This Wednesday, Oct. 5, 2011 photo shows Jackie White in Branchville, N.J. White, a breast cancer survivor and a DES daughter who lives in Centerburg, Ohio, north of Columbus, said she had a misshaped uterus and reproductive problems, and found a lump last year that turned out to be breast cancer. Tests showed 20 tumors in one breast, two pre-cancers in the other and spread to her lymph nodes. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Julio Cortez)eval("var currentItemd57851005a80479aaeeb90a12c70b9ff = 1;");eval("var nextd57851005a80479aaeeb90a12c70b9ff = 0;");eval("var previousd57851005a80479aaeeb90a12c70b9ff = 0;"); 
A drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds.Many of these daughters, now over 40, may not even know of their risk if their mothers never realized or told them they had used the drug, a synthetic estrogen called DES.The new study suggests that infertility is twice as common and that breast cancer risk is nearly doubled in these daughters.Debbie Wingard is one of them. The 59-year-old San Diego woman adopted two boys after being unable to conceive and has had breast cancer twice — when she was 39 and 49."There's no knowing what's going to happen as we age. There's always the fear there's going to be another cancer or another outcome," she said. "I don't think I'll ever get to the point where I feel it's behind me."The sons of DES users also face health risks — testicular problems and cysts — but these are less well studied and don't seem to be as common. Even less is known about the third generation — "DES grandchildren." Some research suggests these girls start menstruating late and have irregular periods, possible signs of fertility issues down the road.In the United States alone, more than 2 million women and 2 million men are thought to have been exposed to DES while in the womb and may now want to talk with their doctors about when they should be screened for health problems."We don't want to cause a panic of everyone rushing out thinking they're going to get cervical or breast cancer. They just need to have that conversation with their physician," said Dr. Sharmila Makhija, women's health chief at the University of Louisville.The average woman has about a 1 in 50 chance of developing breast cancer by age 55; for DES daughters it's 1 in 25, the study found. Risks for other health problems vary.DES, or diethylstilbestrol, was widely used in the United States, Europe and elsewhere from the 1940s through the 1960s to prevent miscarriage, premature birth, bleeding and other problems. Many companies made and sold it as pills, creams and other forms.Studies later showed it didn't work. The government told doctors to stop using it in pregnancy in 1971, after DES daughters in their late teens and 20s were found to be at higher risk of a rare form of vaginal cancer. Further research has tied DES to infertility and various pregnancy problems."They've been identified one at a time. Nobody's been able to get the whole picture," said Dr. Robert Hoover, a researcher at the National Cancer Institute. The new study, which he led, "takes the woman and looks at everything that can happen as a result of this drug," and adds evidence for some previously suspected risks like breast cancer, he said.Results are in Thursday's New England Journal of Medicine.The study started in 1992 and involved about 4,600 DES daughters and a comparison group of 1,900 similar women whose mothers had not used DES. Their health was tracked over time through surveys and medical records. Their average age at the last followup was 48.In the study, researchers found these rates of health problems in DES daughters compared to non-exposed women:—Breast cancer, 3.9 percent versus 2.2 percent.—Cervical pre-cancer, 6.9 percent versus 3.4 percent.—Infertility, 33.3 percent versus 15.5 percent.—Early menopause, 5.1 percent versus 1.7 percentThese complications were seen among women who were able to become pregnant:—Preterm delivery, 53.3 percent versus 17.8 percent.—Miscarriage, 50.3 percent versus 38.6 percent.—Tubal pregnancy, 14.6 percent versus 2.9 percent.—Stillbirth, 8.9 percent versus 2.6 percent.—Preeclampsia (high blood pressure during pregnancy), 26.4 percent versus 13.7 percent.The claim of added breast cancer risk is being tested by 53 women in a lawsuit against DES makers under way now in Boston. One of them is Jackie White, 48, who lives in Centerburg, Ohio, north of Columbus. She said she had a misshaped uterus and reproductive problems, and found a lump last year that turned out to be breast cancer. Tests showed 20 tumors in one breast, two pre-cancers in the other and spread to her lymph nodes."I ate a low-fat diet. I exercise faithfully so I was not overweight. I had none of the normal risk factors," she said.When and how often to screen women for breast cancer is the subject of much debate. A government task force recommends that women at average risk of breast cancer get mammograms every other year starting at age 50, and talk to their doctors about screening before then. Many medical groups urge starting at age 40.DES exposure needs to be considered with the whole picture of a woman's risk, said Dr. G. Wright Bates, director of reproductive medicine at the University of Alabama at Birmingham."In some cases, frequent Pap smears and early mammography or breast MRI may be warranted for women with DES exposure," he said.Others are focused on possible risks to the next generation.Sally Keely, who was part of the federal study, and her husband are both offspring of women who took DES during pregnancy. Keely, 49, of Kalama, Wash., had miscarriages and a tubal pregnancy and required fertility treatments to have a daughter, now 9."I would like to push for more funding on the third generation exposed so I would know best how to advise my daughter," she said.Fran Howell, executive director of DES Action USA, an advocacy group based in Jupiter, Fla., adopted a daughter, now 20, after being unable to conceive."So many of the DES daughters worry about problems with their children," she said. "The DES ends with me."___Online:Cancer Institute: http://www.cancer.gov/cancertopics/factsheet/Risk/DES.CDC: http://www.cdc.gov/des/consumers/about/concerns_daughters.htmlAdvocacy group: www.desaction.org___Marilynn Marchione can be followed at http://twitter.com/MMarchioneAPAssociated Press 
This Tuesday, Oct. 4, 2011 photo shows Debbie Wingard in her office at the University of California-San Diego where she is a professor. Wingard has had breast cancer twice and has been unable to conceive which she believes is due to her mother's use of the drug DES during pregnancy. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Lenny Ignelzi)
This Wednesday, Oct. 5, 2011 photo shows Jackie White in Branchville, N.J. White, a breast cancer survivor and a DES daughter who lives in Centerburg, Ohio, north of Columbus, said she had a misshaped uterus and reproductive problems, and found a lump last year that turned out to be breast cancer. Tests showed 20 tumors in one breast, two pre-cancers in the other and spread to her lymph nodes. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Julio Cortez)
This Tuesday, Oct. 4, 2011 photo shows Debbie Wingard outside the Stein Clinical Research building at the University of California-San Diego where she is a professor. Wingard has had breast cancer twice and has been unable to conceive which she believes is due to her mother's use of the drug DES during pregnancy. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Lenny Ignelzi)
This Wednesday, Oct. 5, 2011 photo shows Jackie White in Branchville, N.J. White, a breast cancer survivor and a DES daughter who lives in Centerburg, Ohio, north of Columbus, said she had a misshaped uterus and reproductive problems, and found a lump last year that turned out to be breast cancer. Tests showed 20 tumors in one breast, two pre-cancers in the other and spread to her lymph nodes. The drug that millions of pregnant women took decades ago to prevent miscarriage and complications has put their daughters at higher risk for breast cancer and other health problems that are showing up now, a new federal study finds. (AP Photo/Julio Cortez)eval("var currentItemd57851005a80479aaeeb90a12c70b9ff = 1;");eval("var nextd57851005a80479aaeeb90a12c70b9ff = 0;");eval("var previousd57851005a80479aaeeb90a12c70b9ff = 0;"); 
The absence of fatty acids in low-fat yoghurt could play a part in increasing asthma risk. Pregnant women who eat low-fat yoghurt can increase the risk of their child developing asthma and hay fever, a study says.
