56% of the population are carriers of genetic mutations susceptible of causing major hereditary diseases, according to a study published in the journal Human Mutation. The research, which has been awarded by the Spanish Fertility Society, proposes to offer, systematically, genetic screening tests for recessive mutations in reproductive medicine units.
Tag: genetic screening
Embryo Testing Should Not Be Controversial
Genetic screening is a wonderful technology that can change the face of IVF: Doctors can finally know which embryos are healthy instead of guessing based on an embryo’s appearance (healthy-looking embryos are not always healthy).
Firm seeks approval for home DNA test
WASHINGTON — Genetic test maker 23andMe is asking the Food and Drug Administration to approve its personalized DNA test in a move that, if successful, could boost acceptance of technology that is viewed skeptically by leading scientists who question its usefulness.
23andMe is part of a fledgling industry that allows consumers to peek into their genetic code for details about their ancestry and future health. The company’s saliva-based kits have attracted scrutiny for claiming to help users detect whether they are likely to develop illnesses like breast cancer, heart disease, and Alzheimer’s.
The biology of how DNA variations lead to certain diseases is poorly understood, and many geneticists say such tests are built on flimsy evidence.
For years, the Silicon Valley company has resisted government regulation, arguing that it simply provides consumers with information, not a medical service. But now company executives say they are seeking government approval, and the scientific credibility that comes with it.
‘‘It’s the next step for us to work with the FDA and actually say, ‘this is clinically relevant information and consumers should work with their physicians on what to do with it,’ ” said chief executive and cofounder Anne Wojcicki, who is married to Google cofounder Sergey Brin. Google and Brin have invested millions in the privately held company, which is based in Mountain View, Calif.
Rolling the Dice of a Genetic Legacy
“Don’t worry. She won’t break.”
This is a classic cliché of new parenthood. “Don’t worry,” nurses say to insecure new parents hesitant to hold their infants. “She won’t break.”
But I know the truth: Babies can break. I broke when I was eight months old, and a year old, and again and again and again. Three dozen broken bones before my twelfth birthday.
And then, at 31, I passed a flawed gene on to my daughter—the gene that caused my osteogenesis imperfecta (OI or “brittle bone disease”) and makes bones fragile instead of resilient.
For my daughter’s second birthday, we bought a child-sized couch to provide a safe place for her—our tiny, fragile girl—to climb without the risk of tumbling from the regular couch to the floor. As she climbed around on the new mini-couch, she fell and broke her leg.
I could not make up a better introduction to the capricious disorder we live with. Last year, my daughter (now 12) fell down a flight of stairs while lining up for a choir concert. She was embarrassed, but fine. A few months ago, she was putting away a laptop computer in her science class when her arm cracked under its weight.
Prenatal genetic test offers more information, raises questions
The latest advance in prenatal genetic testing purports to offer parents more detailed information than ever about the child they are expecting. But for some, the new answers could lead to another round of questions.
The technology allows doctors to detect small or subtle chromosomal changes in a fetus — such as missing or extra pieces of DNA — that could be missed by standard tests.
Most parents will get results confirming a normal pregnancy. But some will learn that their baby has a birth defect, a developmental problem or other medical condition, and in a small number of cases the test will detect things that no one knows quite how to interpret.
The information can allow parents to prepare for early intervention and treatment, but it also could raise questions about terminating the pregnancy or lead to nagging worry over uncertain results.