Genetic Testing to Prevent Wrongful Life

by Dr. Hsien-Hsien Lei
Posted July 25, 2007 in DNA Testing, DNA and Disease

How much will we come to depend on genetic testing to make life and death decisions? For Daniel and Amara Estrada, prenatal testing for Smith-Lemli-Opitz syndrome would have changed their lives and the lives of their two sons.

When their first son was born with the autosomal recessive disorder that results in physical and mental developmental problems, he was misdiagnosed. Their doctor even told them the Estradas’ future pregnancies would be “normal.” So, not knowing that their firstborn was affected by a hereditary disease, they did not seek genetic testing during their second pregnancy. Their second son, now two-years-old, was also born with Smith-Lemli-Opitz syndrome. On Monday, the Estradas won a Florida lawsuit against their doctor that awarded them $21 million for the misdiagnosis of their first son and the subsequent “wrongful birth” of their second.

Wrongful birth or “wrongful life” is a legal term that describes a situation in which a child is born with a disorder that could have been detected in utero and which incurs extensive medical care and other expenses. In these cases, the parents argue that they would have terminated the pregnancy had they received prenatal genetic testing or preimplantation genetic diagnosis (PGD). Of course, genetic testing is also subject to human error and technological limitations. One previous case mentioned by attorney Kevin Costello in his article for GEN on genetic diagnosis and wrongful life focused on mistakes made during PGD which resulted in the wrong embryos being implanted. In that case, the baby boy was born with an X-linked genetic defect.

Costello recommends the following to minimize the chances of wrongful life cases:

Informed consent agreements should better clarify the risks involved in the procedure and describe the techniques employed to minimize the risks. They should also address the technological limitations and natural phenomena that could render a misdiagnosis or erroneous result. These agreements should also describe the differences between the PCR and FISH techniques and their respective accuracy and risks for a particular patient’s genetic-testing goals. Healthcare professionals should thoroughly discuss the content of these agreements with patients. The form that patients sign should also include a specific statement of acknowledgment that all risks have been discussed and are understood and accepted by the patient.

Certainly, many people would argue that there is no such thing as “wrongful” life or “wrongful” birth. Semantics aside, this is a powerful reminder that genetic testing is not a perfect procedure nor are the people who are trained to perform it. The genome revolution is upon us but we are far from living in a utopia.

HT: NA

Tags: Daniel Estrada, Amara Estrada, wrongful birth, wrongful life, preimplantation genetic diagnosis, pgd, genetics, genes, dna, lawsuit, genome, genomics, pregnancy, birth defects, medicine, health

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Esther Dyson, Genome Enthusiast

by Dr. Hsien-Hsien Lei
Posted July 25, 2007 in DNA in General, Personalities with DNA, Polls About DNA

Add Esther Dyson to the list of genome enthusiasts, which includes her father Freeman Dyson, James Watson, Craig Venter, and me! (OK, so I am not of the same league as the others on the list but a girl can dream, can’t she?)

In today’s Wall Street Journal, Ms. Dyson writes about her decision to reveal all–her genome, her health, and her medical records–as part of George Church’s Personal Genome Project (PGP). She gives the following reasons for her “full disclosure”:

1. She wants to show that her genome doesn’t hold any special information that others can use to hurt her.
2. She doesn’t believe she has any deep secrets to hide or anything that would be detrimental to relatives who share parts of her DNA.
3. She doesn’t work for anyone who would fire her for having genetic mutations.
4. She has health insurance.
5. She wants society to start thinking about what will happen when we know more about our genetic predisposition for certain medical conditions – taxes, subsidies, penalties,….
6. She believes that information on our personal DNA will become an inevitable part of our lives. We must begin to address the possibilities now and take responsibility for the consequences.

Esther Dyson’s genome and other personal health info will be released to the public in a couple of months along with nine other people’s (does anyone know who they are?). As Ms. Dyson mentions in her piece, genes are not destiny. Because environment plays a strong, if not stronger, part in who and what we are, how much of that information was collected from the PGP participants? I wonder what factors–genetic or otherwise–might have contributed to the development of someone like Esther Dyson, a successful free-thinking, cutting-edge entrepreneur.

Enrollment in the Personal Genome Project will open again in September. If I had my genome sequenced, I’d like to compare it to Ms. Dyson’s and see what doesn’t match up. Which parts of my DNA kept me from achieving the same heights of success?

Would you apply to have your genome sequenced by the PGP? Take the poll below:

NB: More discussion on the Personal Genome Project at Genome Technology Daily Scan.

Tags: genetics, genes, dna, genome, genomics, personal genome project, esther dyson

(18 comments)

Geeky DNA T-Shirts: The Code of Life

by Dr. Hsien-Hsien Lei
Posted July 24, 2007 in Geeky DNA T-shirts

This DNA t-shirt from Computer Gear is geeky to the max. Jam packed with DNA in all its various representations, it could come in handy during your next genetics or biochem exam!

Tags: genetics, genes, dna, t-shirts

(>> Start a discussion!)

Eye on DNA Links for 24 July 2007

by Dr. Hsien-Hsien Lei
Posted July 24, 2007 in DNA Products, Eye on DNA Headlines

• Laurie Edwards is hosting Grand Rounds, Vol.3, No. 44 at A Chronic Dose in an easy-to-read newspaper format.
• Eye on DNA has pledged to abide by the Healthcare Blogger Code of Ethics.
• Microsoft Research has put out a request for proposals for studies that examine Personalized Medicine: Improving Genome-Wide Association Studies. (via Medgadget)
• The news cycle continues to feature epigenetics with Nova scienceNOW broadcasting a segment on epigenetics today (July 24). It will also be online tomorrow. Meanwhile, check out the audio slide show of identical-twin mice that are not the same because of epigenetics. (via Epigenetics News)
• It’s Christmas in July! Made With Molecules has DNA Transcription Tree Cards that you can use for any occasion but would be perfect for Christmas. (via Omni Brain)

Tags: genetics, genes, dna, genome, genomics, microsoft research

(6 comments)

Mapping Middle Eastern DNA

by Dr. Hsien-Hsien Lei
Posted July 23, 2007 in DNA Around the World, DNA and Genealogy

As a Chinese-American, I haven’t found genetic genealogy to be all that intriguing. That’s mostly out of ignorance since I haven’t done much research into my personal family history let alone China’s long history and lineages. Genealogy DNA testing companies also tend to focus very little on East Asians with only occasional stories about Y-DNA testing for a relationship to Genghis Khan or Confucius.

People of Middle East descent may feel the same way but hopefully not for long. Eastern Biotech & Life Sciences in Dubai have signed an agreement to be part of the Genographic Project via Family Tree DNA. They plan to create a database for the Middle Eastern population. Y-DNA and mtDNA tests are offered at DNAancestry.ae although much of the information there is a duplicate from Family Tree DNA and not specific to Middle Eastern populations. For example, their case studies are of Donald Trump, Brat (sic) Pitt and Pamela Anderson which actually take you to a blank form at Ancestry.co.uk!

On a more serious note, I wonder if knowledge of genetic similarities and differences between these countries could influence their relationships with one another – for the better or for the worse.

NB: According to WorldAtlas.com, the Middle East includes these countries: Afghanistan, Bahrain, Egypt, Iran, Iraq, Israel, Jordan, Kuwait, Kyrgyzstan, Lebanon, Oman, Pakistan, Qatar, Saudi Arabia, Syria, Tajikistan, Turkey, Turkmenistan, United Arab Emirates, Uzbekistan, and Yemen.

Tags: middle east, genetics, genes, dna, genealogy, genographic project, family tree dna

(3 comments)

Environment, Epigenetics, and DNA

by Dr. Hsien-Hsien Lei
Posted July 23, 2007 in DNA in General

Epigenetics in mainstream media news! Good Morning America takes a shallow look at lifestyle and genes today and tried to use the jargon of epigenetics, such as “imprint,” without fully explaining or delving into what that means. BBC News did a much better job covering epigenetics in light of obesity last June.

Epigenetics is the study of the mechanisms that affect the interpretation of DNA. Rather than look at changes to the DNA sequence itself, epigenetic changes involve the environment that surrounds DNA, such as the addition of methyl groups that influence when a gene is turned on and off (aka methylation). Here’s what Mariel Esteller of the Spanish National Cancer Institute in Spain has to say about DNA methylation:

DNA methylation by itself is not healthy or harmful. What is harmful is to have an excess or a defect. We as human beings need a certain level of DNA methylation. Without this we might suffer diseases like cancer, cardiovascular disease and maybe Alzheimer’s.

DNA methylation is like the brakes on a car, because it stops genes from running, stops gene activity. When we look at cancer cells under the microscope, we see lots of broken chromosomes

The website Epigenetics? is an excellent resource for learning more with features, interviews, and latest news on epigenetics. And DNA Network member, Trevor Covert, writes Epigenetics News: Discoveries and Advances in the Field of Epigenetics.

Tags: epigenetics, genetics, genes, dna, methylation, genome, genomics

(1 comment)

Test Teh DNA Lolcat

by Dr. Hsien-Hsien Lei
Posted July 22, 2007 in DNA Fun

lolcat from I Can Has Cheezburger?
I Ar Inosent, Test Teh DNA

Tags: lolcats, dna, genetics, genes, humor, cats

(6 comments)

Eye on DNA Links for 22 July 2007

by Dr. Hsien-Hsien Lei
Posted July 22, 2007 in Eye on DNA Headlines

• Walter at Highlight Health is looking for Pediatric Grand Rounds submissions. Deadline is Friday, July 27.
• Odile Crick, wife of Francis Crick, died on July 5. She was the first artist to render an image of the DNA double helical structure in the April 1953 issue of Nature.

  “She also was famously underwhelmed when her husband — returning from his standing lunch with Watson at the Eagle pub in Cambridge, England — excitedly told her for the first time about his DNA findings.

  ‘You were always coming home and saying things like that,” she said, “so naturally I thought nothing of it.’”

• Men who were proven NOT to be the father using paternity tests may still be responsible for child support regardless of DNA evidence because of signed legally binding documents. In Tennessee, the voluntary paternity-acknowledgment law may take precedence over DNA tests.
• NPR’s Talk of the Nation talks to David Valle, Lawrence Brody, Aravinda Chakravarti, and David Goldstein about genomewide association studies for disease association gene variants – Scientists Scour Genome for Clues About Disease . They also touch on direct-to-consumer genetic testing.
• Esther Dyson is one of the first 10 volunteers to make her medical records and genetic information public as part of Harvard professor George Church’s Personal Genome Project. (Fellow DNA Network member Jason Bobe of The Personal Genome works for the PGP.)

Tags: genetics, genes, esther dyson, paternity test, dna

(>> Start a discussion!)

DNA Video: Dr. James Watson at Google

by Dr. Hsien-Hsien Lei
Posted July 21, 2007 in DNA Podcasts and Videos, Personalities with DNA

In April 2006, Google invited Dr. James Watson to speak as part of the Authors@Google program. Here’s the video of his talk which is approx. 1 hour and 15 minutes.

NB: The start of the video is completely silent with just a picture of Watson and Crick until 6:50 when the program begins.

Tags: google, authors@google, james watson, genetics, genes, dna, history, video

(>> Start a discussion!)

DNA Quote: Scott Adams of The Dilbert Blog

by Dr. Hsien-Hsien Lei
Posted July 20, 2007 in DNA Quotes and Excerpts

From a Scott Adams post about Writing Funny:

Genetic Abnormality
————————-

Humor is like any other human capacity; some people are born with more of it than others. No amount of advice will help if you don’t have the humor gene.

Have you got the humor gene?

Tags: scot adams, dilbert, quotes, genetics, genes, dna, humor

(4 comments)