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Effect of Fertility on Perinatal Outcomes

The impact of ART in a fertile setting cannot be studied because otherwise fertile women cannot be randomly assigned to IVF treatment due to ethical concerns. Recent advances in technology, however, could present an opportunity. Couples with proven fertility may elect to undergo preimplantation genetic testing, and the perinatal outcome of these pregnancies could be used to evaluate an unstudied group: fertile women utilizing ART. An adverse impact observed among them could represent the adverse impact of ART itself.

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First X-Chromosome Related Cause of Male Infertility Identified

The known causes of male infertility not due to physical obstruction are usually because of sex-chromosome defects, such as deletions of the Y chromosome or duplication of the entire X chromosome in Klinefelter syndrome. Eight times out of 10, conventional genetic testing doesn’t reveal a chromosomal problem and infertility is considered idiopathic. We wanted to try to find other genetic reasons for the problem.

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With Genetic Testing, I Gave My Parents the Gift of Divorce

EDITOR’S NOTE: “George Doe” is an American biologist who used the direct-to-consumer genetic testingservice 23andMe as part of a course he was teaching on the genome — and made a surprising discovery about his family in the process. All the names and places here have been changed to protect the privacy of George’s family, though the details of their story remain intact. Read more about how genetic testing affects families here

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Choices after genetic mutation finding affect fertility

The baby shower had a nautical theme. The navy-blue tables were outside the home near Grove Isle. Red roses in silver buckets had a small sign with a sailboat that read “It’s a Boy!”

Some of the guests were friends I had spent time with at nightclubs and parties in Miami in years past. Some were pregnant.

“I was nauseous and felt so sick at first,” one said. “My back hurts. I hope it’s a girl,” another said.

A beautiful little girl dressed in white stole most of my attention. For a moment, it was all too much. I was glad I was wearing sunglasses and discreetly excused myself to the bathroom, where I sat on the floor and cried. If I had not have been diagnosed with cancer, I would be where they are.

Instead, my current dilemma was whether or not I should wait to remove my ovaries.

Having a family is important to me. When I got diagnosed with breast cancer at 33, I was at a place in my life where I felt ready to head in that direction. One day I was healthy and beautiful and the next my life had taken an abrupt turn.

My friend, Michael Maryanoff, 26, a cancer patient, sent me a message that I have thought about often. Read full article.

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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.

Read full article.

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Conflict Potential Seen in Genetic Counselors

Genetic testing raises some vexing ethical questions, like whether it will cause unnecessary anxiety or lead to more medical procedures, including abortions.

Now, as the number of tests and the money to be made from them are exploding, another question is being asked by professionals in the field themselves. Is it ethical for genetic counselors, who advise patients on whether to undergo testing, to be paid by the companies that perform the tests?

While it might not always be immediately obvious to patients, some counselors offering them advice in hospitals and doctors’ offices work for the commercial genetic testing companies, not for the hospitals or doctors themselves.

Critics say the arrangement poses a potential conflict of interest, in that the company-employed counselors might have an incentive to recommend more testing than necessary or not to recommend a test offered by a rival laboratory. The practice, they contend, could undermine trust in the profession just as genetic counselors are poised to play a growing role in medicine, helping patients sift through an ever-increasing array of available genetic tests.

Read full article.

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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.

Read full article.