From the [UK] Times:

A leading geneticist writing in the journal Nature predicts a dramatic increase in parental demand for genetically screened “designer babies” over the next decade.

David Goldstein of Duke University expects to see many more couples screening embryos for genetic variations that substantially raise the risk of common conditions like diabetes, heart disease, autism, schizophrenia and epilepsy.

Embryo screening, which involves pre-implantation genetic diagnosis, is currently used to identify mutations that lead inevitably to serious disease, like cystic fibrosis. Wider use of the process could encourage fresh controversy over the ethics of designer babies, as it would involve screening out embryos that have an elevated risk of developing disease but are otherwise healthy.

In his Nature article, Goldstein called for a broad public debate about the ramifications of widespread genetic screening. “We should think about an appropriate dividing line,” he told the Times. “Most people are in favor of allowing this when a disease is severe, but are more uncomfortable with marginal disease risks. It’s something we are going to have to think hard about.”

Writing in the [UK] Daily Mail, mother Deborah Dooley responds to a neighbor’s comment that she should have terminated her pregnancy rather than give birth to her daughter, who has cystic fibrosis. Daughter Flo is now 20 and is studying dance. An excerpt:

Flo is bright, beautiful, funny, affectionate, clever and hard-working. Yet she is also deemed to be ‘disabled’. To me, this changes nothing….

Very occasionally, I consider the fact that only a last-minute decision stopped me having a test that could have denied my lovely daughter life.

For a brief, sad and always shocking moment I wonder what life without Flo might have been like. Then I think about the huge joy she’s brought us, and how lucky we are to have her – and I feel doubly blessed.

Dooley’s daughter adds:

I do understand the dilemma that parents can go through — I just wonder if people who are so-called ‘ able-bodied’ really take the time to think about those who aren’t: what it means to be disabled, the variations on what we call disabled, and what these people can bring to society.

… I don’t think that being labelled as not quite right, or disabled — or whatever — before you’re even born should mean that you have no right to life. In my opinion, the world needs so-called, less-than-perfect people, those people can live full and happy lives — I believe I’m living proof of that.

(Photo from the [UK] Daily Mail)

Can identify any of 15,000 known genetic disorders, researchers say

From the [UK] Times, [UK] Telegraph, BBC News:

A universal test to check embryos for almost any genetic condition could be available in the UK within a year, British researchers say. Clinical trials are expected to start within months.

Researchers say the £2,500 procedure, called karyomapping, can be used to quickly identify embryos with inherited illnesses like cystic fibrosis and spinal muscular atrophy, among an estimated 15,000 known genetic disorders. They believe it has the potential to eventually eradicate some inherited conditions like Huntington’s Disease, and to look for genetic causes of autism.

Critics say the procedure sparks fears that parents will selectively terminate fetuses with non-serious conditions, but scientists say its use would be heavily regulated in Britain and limited to serious diseases. In theory, the process could be used to select for particular characteristics like height and hair color.

“We’re not mad Frankensteins working away in our labs creating designer babies. We can only look for major disorders,” said Prof. Tony Rutherford, chairman of the British Fertility Centre.

(more…)

From CNN Money:

San Diego-based Sequenom, Inc. is best known for a prenatal test designed to detect Down syndrome, but its chief executive said this week that the company sees an even bigger opportunity in genetic testing for inherited diseases like autism, heart ailments, cystic fibrosis and birth defects.

Speaking at the annual Lazard Capital Markets health care conference, Harry Stylli said the market for testing for prenatal chromosomal disorders like Down syndrome could be $3 billion to $5 billion worldwide, but he expected the market for the other disorders to be bigger.

They would be detected through testing for tiny variations in the genetic code called single nucleotide polymorphisms, or “snips.” Stylli said that about 6 percent of all babies have a birth defect, and 30 percent of those are due to an inherited condition.

“There are many other things that you’d like to be able to test for,” Charles Cantor, Sequenom’s chief scientific officer, said in a telephone interview. “Down’s is the single most common fetal defect, but it’s the tip of the iceberg.”

Earlier posts start here.

By Patricia E. Bauer

The House has joined the Senate in passing a measure that disability rights advocates hope will fundamentally change the conversations that are taking place between pregnant American women and their doctors.

Passed on a voice vote on Thursday, the bill would provide for accurate, up-to-date information and support for parents who receive a diagnosis of Down syndrome or other disabilities such as spina bifida or cystic fibrosis either prenatally or up to a year after the birth of their child. President Bush is expected to sign it.

Passage of the measure marks the culmination of an unprecedented bipartisan effort that has joined supporters of abortion rights, led by co-sponsor Sen. Edward M. Kennedy (D-Mass.), with opponents of abortion, led by co-sponsor Sen. Sam Brownback, and disability rights advocacy groups. Kennedy is also a longtime advocate for people with disabilities.

While members of this loose coalition may have profound disagreements about what may be acceptable at the end of a pregnancy, they came together around another key question in prenatal care: What kind of information and support should be available to pregnant women if initial testing reveals the presence of a disability?

The question has become more urgent in recent years as more women are postponing childbearing, putting them at a greater risk of having pregnancies marked by genetic and other abnormalities, and as the offer of prenatal testing has become standard care.

(more…)

Tom Service, [UK] Guardian music blogger, disputes Poland’s refusal to allow the heart of Frederic Chopin (left) to be tested for cystic fibrosis.

As the scientists say, ‘Is it not right to make an attempt to prove to many suffering people that many things count in life much more than a weak physical body, and they are not predestined to vanish without leaving something that will influence, inspire and enrich generations to come?’

…[Chopin's] music, instead of merely reflecting his sickliness or the way he succumbed to his physical frailty, is heroic: not just in the way he created a whole new approach to playing and composing for the piano, but also because his creativity transcended the hardships of his life. If it was cystic fibrosis rather than TB, then that just makes Chopin’s music the more astonishing. For sure, it won’t change the musical significance of his output, but I think we ought to know: let the scientists have their sample, I say.

Earlier post here.

(Image from Schick’s portrait, Hulton archive, in the [UK] Guardian)

From Time/Associated Press, the [UK] Guardian:

The Polish government has denied requests from scientists to perform DNA tests on Chopin’s heart to determine whether the composer actually died from complications associated with cystic fibrosis, not tuberculosis.

Chopin’s heart has been preserved in a jar of alcohol inside a pillar at Warsaw’s Holy Cross Church since 1849, except when removed for safekeeping during World War II.

Cystic fibrosis was not discovered until decades after Chopin died at age 39, and scientists believe the heart could validate historical evidence suggesting that many of his symptoms match the condition, including respiratory infections, recurrent fevers, delayed puberty and infertility.

A government spokeswoman said the research was not “justified by the potential knowledge to be gained.”

(more…)