Tuesday, February 17, 2009

http://www.latimes.com/news/opinion/commentary/la-oe-mgoldberg17-2009feb17,0,4288749.story

From the Los Angeles Times

Opinion

Select a baby's health, not eye color

Clinics offering to create designer babies may turn people against a procedure that can save lives.

By Allen Goldberg

February 17, 2009

Something stinks about reproductive medicine in Southern California, and it doesn't involve eight dirty diapers.

Recently, the Los Angeles-based Fertility Institutes announced that it would soon be offering patients at its clinics the chance to choose traits such as "eye color, hair color and complexion." The clinics already offer gender selection to patients undergoing in vitro fertilization.

The Fertility Institutes employs a technique known as "preimplantation genetic diagnosis," which allows doctors to screen embryos soon after they are created in a petri dish and implant only the ones that meet certain criteria. The technique was invented to help high-risk families avoid or manage potentially deadly genetic traits, and to help women who've had multiple miscarriages conceive babies they can carry to term.

Now the Fertility Institutes is corrupting this lifesaving clinical procedure by using it to help families create designer babies, and I worry that their excesses will turn public sentiment against all preimplantation genetic diagnosis. That would be wrong.

My son, Henry, was born with a rare and fatal genetic disease, Fanconi anemia. Fanconi patients are born with faulty immune systems and a host of health problems. They are at high risk for leukemia and other deadly diseases and usually die before the age of 30. The only hope is a bone marrow transplant that replaces the immune systems they are born with. The transplants are most likely to succeed if the donor is a sibling who is a perfect genetic match.

My wife, Laurie, and I had always planned to have more children, and in the late 1990s we decided to try to employ preimplantation genetic diagnosis in an attempt to conceive a baby free of the deadly disease who would be a perfectly matched cord-blood donor for Henry. Cord blood is usually disposed of after birth, and harvesting it causes no problems or discomfort for a baby.

We were among the first families attempting the technique, but after three years of trying unsuccessfully, we ran out of time. Henry's health was deteriorating, and he needed an immediate transplant, which he got from an unrelated donor. Ultimately, his body rejected it. In December 2002, he died at the age of 7.

In the decade since we first tried to conceive using embryo screening, the technology has improved and has saved many lives. I get letters and e-mails with regularity from other Fanconi anemia families who were able to conceive babies who saved their siblings' lives.

But not all Fanconi families are lucky enough to live in the United States, where preimplantation genetic diagnosis is legal. The regulation and availability of the technique in the European Union is a patchwork, and some countries ban the practice outright.

I understand that there are ethical issues surrounding the procedure. Not all families are comfortable with creating embryos in the laboratory knowing that some of them will be discarded. And no one would advocate creating a child who is only wanted to save another's life. But the choice of whether to employ screening is a deeply personal one and should be considered with great care by families in consultation with their doctors and genetic counselors.

What I now fear, though, is that clinics offering trait selection to satisfy the whims of parents will turn people against a procedure that can save lives.

Henry was among the most optimistic, wise and courageous people I have ever met. We felt a great responsibility to do everything in our power to save his life. In the end, that wasn't possible. But our efforts contributed to scientific knowledge, and for that we are grateful. Abusing that hard-won knowledge to capriciously choose hair color, eye color and other cosmetic traits in a baby is wrong and repugnant.

Allen Goldberg is a marketing executive who lives in Washington. His blog about his son, Henry, can be found here!

Benefit for Alise Williams

Posted: Feb 15, 2009 03:37 PM

CEDAR FALLS (KWWL) -- Alise Williams spent her fourth birthday in a Minnesota hospital Saturday. Williams is undergoing chemotherapy and a bone marrow transplant. Williams was born with 7 holes in her heart, and after her second open heart surgery, she was diagnosed with a genetic disorder called Fanconi Anemia.

The genetic disorder, seen approximately one in 600,000 people, causes an increased risk of cancer. William's parents and her 9 year old brother have been living in the Ronald McDonald house, near the University of Minnesota.
To help family through these treatments, friends gathered at the Cedar Falls AMVETS Sunday, holding a benefit for Alise Willimas+
"However, they still have their home here, still have bills. Deb had to quit her job for a year. Troy's taken a leave. Its been a hardship in that way also," said aunt Ladawn Hankins.

The benefit included several raffles and a silent auction. The donations were donated by friends, family, and people who didn't even know Alise.

Online Producer: Jackie Manternach

Thursday, February 12, 2009

Thank god for Dr. Hughes. Always the voice of reason. But where is the outrage from other doctors and everyone else. This doctor who is advocating using PGD for "cosmetic" purposes is dangerous. There are FA families who can't get PGD in the countries where they live, and this guy wants to cavalierly and capriciously cater to the vanity of parents who want to order traits for their kids a la carte.

Just because something can be done doesn't mean you should do it.

This is truly crazy and needs to be stopped before he endangers the techniques life-saving applications. Maybe I'll write a letter to the newspaper.

FEBRUARY 12, 2009

A Baby, Please. Blond, Freckles -- Hold the Colic

Laboratory Techniques That Screen for Diseases in Embryos Are Now Being Offered to Create Designer Children

By GAUTAM NAIK

Want a daughter with blond hair, green eyes and pale skin?

A Los Angeles clinic says it will soon help couples select both gender and physical traits in a baby when they undergo a form of fertility treatment. The clinic, Fertility Institutes, says it has received "half a dozen" requests for the service, which is based on a procedure called pre-implantation genetic diagnosis, or PGD.

While PGD has long been used for the medical purpose of averting life-threatening diseases in children, the science behind it has quietly progressed to the point that it could potentially be used to create designer babies. It isn't clear that Fertility Institutes can yet deliver on its claims of trait selection. But the growth of PGD, unfettered by any state or federal regulations in the U.S., has accelerated genetic knowledge swiftly enough that pre-selecting cosmetic traits in a baby is no longer the stuff of science fiction.

"It's technically feasible and it can be done," says Mark Hughes, a pioneer of the PGD process and director of Genesis Genetics Institute, a large fertility laboratory in Detroit. However, he adds that "no legitimate lab would get into it and, if they did, they'd be ostracized."

But Fertility Institutes disagrees. "This is cosmetic medicine," says Jeff Steinberg, director of the clinic that is advertising gender and physical trait selection on its Web site. "Others are frightened by the criticism but we have no problems with it."

PGD is a technique whereby a three-day-old embryo, consisting of about six cells, is tested in a lab to see if it carries a particular genetic disease. Embryos free of that disease are implanted in the mother's womb. Introduced in the 1990s, it has allowed thousands of parents to avoid passing on deadly disorders to their children.

But PGD is starting to be used to target less-serious disorders or certain characteristics -- such as a baby's gender -- that aren't medical conditions. The next controversial step is to select physical traits for cosmetic reasons.

"If we're going to produce children who are claimed to be superior because of their particular genes, we risk introducing new sources of discrimination" in society, says Marcy Darnovsky, associate executive director of the Center for Genetics and Society, a nonprofit public interest group in Oakland, Calif. If people use the method to select babies who are more likely to be tall, the thinking goes, then people could effectively be enacting their biases against short people.

In a recent U.S. survey of 999 people who sought genetic counseling, a majority said they supported prenatal genetic tests for the elimination of certain serious diseases. The survey found that 56% supported using them to counter blindness and 75% for mental retardation.

More provocatively, about 10% of respondents said they would want genetic testing for athletic ability, while another 10% voted for improved height. Nearly 13% backed the approach to select for superior intelligence, according to the survey conducted by researchers at the New York University School of Medicine.

There are significant hurdles to any form of genetic enhancement. Most human traits are controlled by multiple genetic factors, and knowledge about their complex workings, though accelerating, is incomplete. And traits such as athleticism and intelligence are affected not just by DNA, but by environmental factors that cannot be controlled in a lab.

While many countries have banned the use of PGD for gender selection, it is permitted in the U.S. In 2006, a survey by the Genetics and Public Policy Center at Johns Hopkins University found that 42% of 137 PGD clinics offered a gender-selection service.

The science of PGD has steadily expanded its scope, often in contentious ways. Embryo screening, for example, is sometimes used to create a genetically matched "savior sibling" -- a younger sister or brother whose healthy cells can be harvested to treat an older sibling with a serious illness.

It also is increasingly used to weed out embryos at risk of genetic diseases -- such as breast cancer -- that could be treated, or that might not strike a person later in life. In 2007, the Bridge Centre fertility clinic in London screened embryos so that a baby wouldn't suffer from a serious squint that afflicted the father.

Instead of avoiding some conditions, the technique also may have been used to select an embryo likely to have the same disease or disability, such as deafness, that affects the parents. The Johns Hopkins survey found that 3% of PGD clinics had provided this service, sometimes described as "negative enhancement." Groups who support this approach argue, for example, that a deaf child born to a deaf couple is better suited to participating in the parents' shared culture. So far, however, no single clinic has been publicly identified as offering this service.

Like several genetic diseases, cosmetic traits are correlated with a large number of DNA variations or markers -- known as single nucleotide polymorphisms, or SNPs -- that work in combination. A new device called the microarray, a small chip coated with DNA sequences, can simultaneously analyze many more spots on the chromosomes.

In October 2007, scientists from deCode Genetics of Iceland published a paper in Nature Genetics pinpointing various SNPs that influence skin, eye and hair color, based on samples taken from people in Iceland and the Netherlands. Along with related genes discovered earlier, "the variants described in this report enable prediction of pigmentation traits based upon an individual's DNA," the company said. Such data, the researchers said, could be useful for teasing out the biology of skin and eye disease and for forensic DNA analysis.

Kari Stefansson, chief executive of deCode, points out that such a test will only provide a certain level of probability that a child will have blond hair or green eyes, not an absolute guarantee. He says: "I vehemently oppose the use of these discoveries for tailor-making children." In the long run, he adds, such a practice would "decrease human diversity, and that's dangerous."

In theory, these data could be used to analyze the DNA of an embryo and determine whether it was more likely to give rise to a baby of a particular hair, skin or eye tint. (The test won't work on other ethnicities such as Asians or Africans because key pigmentation markers for those groups haven't yet been identified.)

For trait selection, a big hurdle is getting enough useful DNA material from the embryo. In a typical PGD procedure, a single cell is removed from a six-cell embryo and tested for the relevant genes or SNPs. It's relatively easy to check and eliminate diseases such as cystic fibrosis that are linked to a single malfunctioning gene. But to read the larger number of SNP markers associated with complex ailments such as diabetes, or traits like hair color, there often isn't enough high-quality genetic material.

William Kearns, a medical geneticist and director of the Shady Grove Center for Preimplantation Genetics in Rockville, Md., says he has made headway in cracking the problem. In a presentation made at a November meeting of the American Society of Human Genetics in Philadelphia, he described how he had managed to amplify the DNA available from a single embryonic cell to identify complex diseases and also certain physical traits.

Of 42 embryos tested, Dr. Kearns said he had enough data to identify SNPs that relate to northern European skin, hair and eye pigmentation in 80% of the samples. (A patent for Dr. Kearn's technique is pending; the test data are unpublished and have yet to be reviewed by other scientists.)

Dr. Kearns' talk attracted the attention of Dr. Steinberg, the head of Fertility Institutes, which already offers PGD for gender selection. The clinic had hoped to collaborate with Dr. Kearns to offer trait selection as well. In December, the clinic's Web site announced that couples who signed up for embryo screening would soon be able to make "a pre-selected choice of gender, eye color, hair color and complexion, along with screening for potentially lethal diseases."

Dr. Kearns says he is firmly against the idea of using PGD to select nonmedical traits. He plans to offer his PGD amplification technique to fertility clinics for medical purposes such as screening for complex disorders, but won't let it be used for physical trait selection. "I'm not going to do designer babies," says Dr. Kearns. "I won't sell my soul for a dollar." A spokeswoman for Dr. Steinberg said: "The relationship between them is very amicable, and this center looks forward to working with Dr. Kearns."

For trait selection, Dr. Steinberg is now betting on a new approach for screening embryos. It involves taking cells from an embryo at day five of its development, compared with typical PGD, which uses cells from day three. The method potentially allows more cells to be obtained, leading to a more reliable diagnosis of the embryo.

Trait selection in babies "is a service," says Dr. Steinberg. "We intend to offer it soon."

Write to Gautam Naik at gautam.naik@wsj.com

Wednesday, February 11, 2009

Mom said that it is getting time to help her put together the photos for her book. Wow. I am incredibly excited but at the same time intimidated by that. There are so many great photos, I'd want to include them all. It is going to be hard to choose.

Here is a photo of you from the Central Park petting zoo. I "borrowed" it from Nana when she pulled out a big box of her pictures when we were in St. Michaels in December on the anniversary of your death. I wish there was a "hi-def" scanner. All of the colors seem to get muted when I scan the photos.

The good thing is that anyone who wants to see more pictures of you can come here. There will probably be a website for the book with links here and to the earlier blog. Maybe I can put together a mega-slideshow of the best of your pictures for that.

You remember how your friend Sara Albert was on the show America's Next Top Model, well here is another Fanconi connection for the show. I said that Madeline Finnegan was the prettiest Fanconi patient ever. Now she'll be even more beautiful.

'ANTM' Judge Makes Dreams Come True

Tuesday, February 10, 2009

Though it may seem as if he's capable of crushing a model's aspirations on TV, Nigel Barker is actually out to fulfill wishes – for one lucky 13-year-old girl, that is. The America's Next Top Model judge has worked with the Make-A-Wish Foundation to help out teenager Madeline Finnegan, who has held on to dreams of becoming a famous fashion model for some time.

Finnegan, who hails from the town of Huntsville, Alabama, was flown to New York recently to get the full top model treatment, from the hair to the make-up and of course, the wardrobe. Afterwards, she accomplished her goal of being photographed by one of the industry's best – Nigel Barker. She came home with a portfolio compiled by the America's Next Top Model personality, which she truly delighted in.