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.”

Time Magazine’s end-of-the-year issue names autism research as number 7 in the list of “Top 10 Medical Breakthroughs of 2009.” An excerpt:

… Researchers this year identified one possible genetic clue [to the origins of autism]: Variations on a region of chromosome 5, which appear to play a crucial role in about 15% of cases of autism. Working with the Autism Genetic Resource Exchange – a DNA database of more than 2,000 families affected by autism, and the largest genetic study of the disorder ever attempted – researchers zeroed in on variations in genes that code for proteins involved in forming connections in the brain.

Among other top breakthroughs: An effective AIDS vaccine (number 2) and the discovery of genetic links to Alzheimer’s disease (number 9).

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)

The Farlows had charged that Toronto’s Hospital for Sick Kids deliberately killed their daughter, who had a genetic disorder; Ruling will likely end their court challenge

From the [Toronto] National Post:

The parents of a baby with Trisomy 13 who died at Toronto’s Hospital For Sick Children in 2005 have lost a major court ruling over their claims that doctors and the hospital deliberately killed their daughter, Annie.

Barbara and Timothy Farlow filed the malpractice claim in small claims court, claiming that  doctors gave Annie “medications to hasten her death” and that the hospital practiced “a policy of non-treatment for infants with serious genetic disorders.”

They were seeking a token penalty of $10,000 for the death of their daughter, the maximum allowed in small claims court.

The judge ruled that the case must be elevated to the more costly Superior Court, and that the Farlows could be liable for future costs. The Farlows say that denying them action in small claims court denies them justice.

“I appreciate that for the Farlows this case is not about money but is about systemic change. However, the remedies that Mrs. Farlow articulated in court [various orders against Sick Kids requiring it to, for example, change its narcotics dispensing system and give mandatory education to physicians on laws of consent] represent a significant broadening beyond the $10,000 sought in the existing claim,” Judge [Thea] Herman wrote.

Earlier posts here.

From the New York Times:

The Genetic Information Nondiscrimination Act (GINA) will go into effect next weekend, prohibiting employers from requesting genetic testing or considering a person’s genetic background in hiring, firing or promotions.

The law also prohibits health insurers from requiring genetic testing or using a family medical history to deny coverage or assess premiums or deductibles.

“It doesn’t matter who’s asking for genetic information, if it’s the employer or the insurer, the point is you can’t ask for it,” said John C. Stivarius Jr., a trial lawyer based in Atlanta who advises businesses about the new law.

Earlier posts here.

From the Grand Rapids [MI] Press:

The Perinatal Care Program provided by Hospice of Michigan offers comfort and guidance to families coping with a prenatal diagnosis of a life-limiting condition. (At left, Jody Kyser and her daughter Chloe, who had Trisomy 18).

The program is one of only four in the state that offers support to such parents and helps them deal with the uncertainty of the diagnosis – answering questions like how to give the news to the other children, how to deal with questions about the pregnancy, how much medical intervention to seek, and how to plan a funeral.

“It’s really nice to be able to offer families something more,” said Trudy McKanna, a genetics counselor. “You feel like you give them perhaps the worst news of their life, and you want to be able to help them. If there’s nothing you can do to help the baby medically, you at least want to be able to take care of their emotional needs and their family needs.”

(Photo from Grand Rapids Press)

From the [UK] Guardian:

A British “docusoap” is following the humor and drama of five young adults living together in Brighton. Sounds like a typical teen reality show, but it has a catch: all five housemates have genetically-based learning disabilities.

The online series, “The Specials,” features Lucy, Lewis, Sam, Megan and Hilly, ages 19-23, who have known each other since childhood and are living as independently as possible with support. Four have Down syndrome; one has Williams syndrome.

Learning disabilities charity Mencap believes the docusoap will help people to understand what it is like to be a young person with a learning disability. Lorainne Bellamy, a Mencap spokeswoman who has a learning disability, says: “People with a learning disability have hopes and dreams for the future just like anyone else. We hope that people watch the series and get to know these five individuals, sharing their ups and downs.”

(Broadcast Now photo)