Writing in the American Spectator, Daniel Allott assesses the potential impact of Sequenom, a California company that has promised to produce an earlier, more reliable prenatal test for Down syndrome. The introduction of Sequenom’s test to the marketplace has been delayed as a result of the alleged “mishandling” of data by its employees.

…Recent developments may delay the impending epidemic of disability abortions caused by enhanced genetic testing …(but) none of this means unborn babies with disabilities will be granted an extended reprieve. Sequenom says it wants to have a validated test by the fourth quarter of 2009 and new tests launched by late 2010 or early 2011. And at least three other companies are developing similar genetic tests and hope to have them on the market by the end of the year.

A mother’s womb is already the most hazardous place on earth for a baby. It won’t be long before it becomes a death chamber for almost all babies with disabilities.

By Peter A. Benn and Audrey R. Chapman in the Journal of the American Medical Association (subscription required):

Benn and Chapman say noninvasive prenatal diagnosis for fetal chromosomal abnormalities are expected to be commercially available within a year. The expected introduction of such tests raises “significant ethical issues,” they say, and will require the “ill-prepared medical system to change how patients are counseled and how cases are managed.”

Among other concerns, the authors cite these:

– Women currently receiving fetal Down syndrome screening often receive only limited information prior to the screening and are rarely asked to provide informed consent. Many women are unaware that this screening may ultimately lead to questions about further invasive testing and possible termination of the pregnancy.

– The use of noninvasive testing “may be encouraged” by for-profit laboratories, insurance companies and governmental health agencies that could derive economic benefits from the use of the testing, potentially undercutting individual patient choice.

– The reduced prevalence of people with identifiable genetic disabilities in the population could “subtly alter public attitudes toward the acceptability of continuing an affected pregnancy.” This attitude shift could “diminish understanding and support for affected individuals and their families and increase the stigma associated with having a genetic disorder.”

The authors call for the public, medical professional societies, and the government to be proactively involved in shaping the future of this testing.

An excerpt:

“It is important that the US Food and Drug Administration assume regulatory authority over genetic testing. There also needs to be an objective and scientific body that could consider these viewpoints, develop codes of practice, provide patient and professional education, make regulatory recommendations, and set minimum standards for prenatal diagnosis.

In summary, noninvasive prenatal diagnosis can potentially improve the safety and efficacy of prenatal diagnosis and thereby encourage wider application. However, its use requires new approaches in genetic counseling, reassessments of the utility of related testing, and expansion of testing oversight.”

Newsweek magazine profiles Ari Ne’eman, the 21-year-year-old founder of the nonprofit Autistic Self-Advocacy Network. Ne’eman is a master networker who wants to convince the world that autism is not a medical mystery that needs to be cured, but rather a type of “neurodiversity” that should be accepted by society.

Ne’eman, who has Asperger’s syndrome, is troubled by the ethical implications of genetic research into autism. He fears that a prenatal test for autism could lead to “eugenic elimination,” which would mean people like him might cease to exist. Autism is not a fatal condition, he says. Should people without the disorder be allowed to judge the quality of life of someone who has it?

“That is a message that the world doesn’t want us here,” says Ne’eman, “and it devalues our lives.”

The prospect of no more Ari Ne’emans – whether you agree with him or not – is haunting. Termination of fetuses with Down syndrome is routine today; given the fear that autism inspires in parents, why wouldn’t it follow? And what would our world be like without autism?

… One of Ne’eman’s latest efforts is a new public-service announcement called “No Myths,” which he helped create with the Dan Marino Foundation, a funder of autism research. In it, Ne’eman appears in a red sweater and tie along with others on the spectrum, including a man who speaks through a communication device. “Our futures have not been stolen,” Ne’eman says. “Our lives are not tragedies.” The message is clear: We stand before you. Don’t make us go away.

Related posts here and here.

(Photo of Ari Ne’eman from ‘No Myths’ PSA)

Advocacy group says patients with disabilities were denied routine treatments

From the Wisconsin State Journal:

A group of disability rights advocates has filed a lawsuit alleging that doctors at the University of Wisconsin Hospital broke the law by withholding treatment from two unnamed patients with developmental disabilities who developed pneumonia. One of the patients died.

The University of Wisconsin maintains that the hospital was trying to follow the wishes of the families involved, and was acting in the best interest of both patients. Legal experts say the lawsuit could have broad implications in determining how much power families and guardians have to withhold care from vulnerable patients.

Disability Rights Wisconsin contends that state law prevents parents and guardians from withholding routine treatment for patients unless they are in a “persistent vegetative state,” a condition the lawsuit said did not apply to the two unnamed patients.

“What is at stake in this case is no less than patients’, parents’ and families’ ability to make private health care decisions in the best interests of the patient,” UW spokeswoman Lisa Brunette said in a statement.

From the [UK] Daily Mail:

Both of Yvonne Finlayson’s IVF twins (at left) have birth defects that have required medical treatment and surgery.

Scientists say test-tube babies are up to 30 percent more likely to come with birth defects, and Finlayson and her husband, Mark, say they feel guilty that their desperation for children may have blinded them to the risks.

The Finlaysons say they love their children and wouldn’t change them, but they wish they had gotten better information in advance They also said they would not consider further fertility treatments.

… at a time when more than 12,000 babies are born every year as a result of fertility treatment, critics have seized upon these statistics as evidence of our over-reliance upon techniques which, even the experts admit, we still know relatively little about.

Rushing to judge others — the Toronto Star. An excerpt:

[Jason] Wallace’s daughter, two-month-old Kaylee, has a rare medical condition and doctors had said she was unlikely to live long. Wallace and his wife Crystal Vitelli hoped their daughter’s heart could be donated to save the life of another desperately ill infant, one-month-old Lillian.

But when Kaylee was removed from a respirator she didn’t immediately die, so that transplant didn’t take place. Then the public recriminations began.

Public comments posted on one newspaper’s website included accusations that Wallace would rather have his daughter die than live with the inconvenience of a severely disabled child.

… We should not rush to judge, especially when we don’t know all the circumstances or possess all the facts. From a distance, it is difficult to appreciate the personal anguish someone else is going through.

(more…)

Jason Wallace, whose 6-week-old daughter is at the center of a public ethics debate in Canada, talks with Ian Brown of the [Toronto] Globe & Mail.

Kaylee Wallace was born with Joubert syndrome, a rare brain disorder which can account for a wide range of symptoms of unpredictable severity. Wallace had been told that his daughter was going to die, and offered to donate her heart for transplantation into another infant.

But Kaylee did not die when removed from a respirator. Wallace said he was offended when a doctor at Toronto’s Hospital for Sick Children suggested that they stop feeding Kaylee. He said he was also told by hospital staff that the money spent caring for Kaylee “would be better utilized on another child.” An excerpt:

Mr. Wallace has transformed himself into a public hero. In private, though, he sounds like someone else — a father facing the terrifying prospect of a life with a profoundly disabled child.

… He has no doubt about what he would have done if Kaylee had shown signs in utero of being severely compromised. “If we had seen these ultrasounds results, we would not have considered bringing such a child into the world.”

(more…)