Genetic Testing to Prevent Wrongful Life

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.

silhouette pregnant motherWhen 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

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(15 comments)


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15 Comments

Comment by KathyF Subscribed to comments via email

Just what are the chances of an error in genetic testing? I tested negative for HD and ever since have had a niggling worry in the back of my mind–what if they got it wrong?

Comment by Hsien

Hi Kathy, Thanks for your comment. I can understand how you feel. I worry about these kinds of things too. What I would do is to call up the lab/genetic counselor responsible for your test and ask for information on accuracy and quality assurance. Since the genetic test for Huntington’s is well established, there is very little chance you received a false negative but if you’re concerned, it doesn’t hurt to call them up and ask. Good luck!

 
 
Comment by KathyF Subscribed to comments via email

Thanks for the info. I’ll see if I can find out the testing lab, especially if I ever develop any suspicious symptoms. Wouldn’t that be a wicked trick? I was just telling someone yesterday how I felt like I’d gotten a new lease on life after the result.

Comment by Hsien

Don’t stress and enjoy the rain. ;) What crummy weather we’ve been having here in the UK!!!

 
 
Comment by Nick gogerty Subscribed to comments via email

great post. the world is changing fast. This generation will know more about it’s own mortality than any other. There are going to be some huge cultural shifts due to the self awareness and application of this power. Let’s hope compassion and wisdom persevere.

Comment by Hsien

Thanks, Nick! Nice to hear from you again.

I often wonder how things will be 10 years from now. I hope we will have made lots of progress by then but, on the other hand, how different is life now than it was when we were kids?

 
 
Comment by Patrick Subscribed to comments via email

Oh my.
No second opinion about the nature of their first son’s difficulties was requested by the parents after receiving a favorable diagnosis? If they had heard a diagnosis they did not like, how likely would they be to ask for a second opinion? Perhaps a subtraction from the settlement award for a failure by the parents to perform due diligence is in order. If that is negligence, how much is it worth? If we assume the diagnosing physician did his best (and made a mistake) and the parents did their best (and made a mistake), should they not be held to a similiar standard?

If a misdiagnosis had occurred and there was no in utero test for Smith-Lemli-Opitz syndrome, what would the jury have awarded the plaintiffs? How much is a misdiagnosis award worth vs. a wrongful birth award (i.e. a confounding error caused by the misdaignosis)?

If the second fetus would have been aborted by an unfavorable in utero testing, the value of the child that developed from that fetus has been delimited by the parents (i.e. the fetus was not of unlimited or infinite worth). Given the now ‘delimited’ value of the child, I wonder what prevents the parents from giving away the child to become a ward of the state?
If the jury validates the plaintiff’s claim that the second son is a wrongful birth, I wonder how they view and treat their second child.

Are they seeking in the award only assistance in raising their two children who will incur far greater costs than average? Are there not assistance programs (and one may assume inadequate) to assist families caring for special needs children without resorting to litigation?

I am perplexed at the jury’s rationale for the award. The plaintiff’s attorney’s motives I can more readily comprehend.

Comment by Hsien

Thanks for the comment, Patrick.

The difference between a physician’s responsibility and the parents’ would be that the physician is trained to diagnose diseases. Certainly, the parents have the right to seek a second opinion but if they don’t know enough to do so, can we still blame them? In an era of the empowered patient, some of us won’t rest until we learn everything but many people are faced with the day-to-day struggles of dealing with severely disabled children and are probably completely overwhelmed. It would be nice to feel that we could trust our healthcare providers to do what’s best for us and our families.

I’m sure the Estradas love and care for both of their sons equally but feel they need to be compensated for the additional burden of caring for them. And considering the state of the healthcare system in the US, I’m sure they could use every penny. I just can’t imagine them as uncaring, greedy parents.

 
 
Comment by NA Subscribed to comments via email

Hsien, Thanks for making this posting.

To everyone else, here is my .02.

A wrongful life is not close too a wrongful birth. A wrongful life means that the child would sue the parents for being born. A wrongful birth means the parents sue other people for being burdened with a disabled child that could have been avoided. In essence, a wrongful birth suits can be genetic or prenatal malpractice suits tort cases.

Nobody talks about a wrongful pregnancy (beyond rape), but a wrongful pregnancy means that you became pregnant or had a child period without wanting it (this happens if a pregnancy isn’t detected or a sterilisation procedure fails).

A wrongful breech of warrenty means that a mother or child can sue because a bad embryo was used in the IVF procedure in the case preimplantation diagnostic is available. This opens up the possibility that a child can sue related to preimplantation diagnostics.

Here are some good readings on this topic:

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=2956424&dopt=AbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=6868627&dopt=AbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10986948&dopt=AbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=9646588&dopt=AbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=8691997&dopt=AbstractPlus

http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=9131346&dopt=AbstractPlus

The issue here is not that the parents should have gotten a second opinion; it’s the fact that a misdiagnosis took place that lead to a failure for a genetic test that would have been available if the correct diagnosis was given.

Here is an NPR video:

http://www.npr.org/templates/story/story.php?storyId=5283840

Comment by Hsien

Thanks for all the info, NA. The terms “wrongful life” and “wrongful birth” are legal ones and I’m not sure if in that context, they are the same or different. The general issue here is medical malpractice and that’s a whole ‘nother kettle of fish.

 
 

[...] question from Kathy F about the accuracy of genetic tests got me to wondering about general quality [...]

 
Comment by Patrick Subscribed to comments via email

Dear NA,

I found the last sentence in one of the abstracts to be intriguing:
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=2956424&dopt=AbstractPlus
J Med Ethics. 1987 Jun;13(2):69-73.
“Liu [...] suggests that court may not be the best forum for settling these disputes, and proposes a social security system to compensate handicapped children born because physicians were negligent in offering parents prenatal counseling and screening.”

Thank you for the research.

Dear Hsien,

Thank you for your reply.

My point in asking if the failure to seek a second opinion should be used as a criteria for decreasing the award value would be be to indicate that many factors were at play in the decision to have a second child and in not getting the fetus tested. Some people have genetic testing done without prior reason and some have it done despite reassurances from physicians. The parents made a choice and are suggesting that the major factor in not requesting testing of the second child was the physician’s diagnosis. I would not wish to assign blame, but perhaps request that the parents assume a share of the responsibility.

The parents assert that given a positive test for the syndrome, the second fetus would have been aborted. That’s a reasonable, but untestable assertion. There is the formal possibility that they may have come to accept that their second child would have special needs as does their first. Would that have modified the award amount? Perhaps I am most disturbed by the notion of a “wrongful birth” in this context.

If, as you correctly suggest, the parents were overwhelmed by the day to day cares of raising a special needs child, it leads me to wonder why they chose to care for a second child. I have no time line to indicate the interval between the first birth, faulty diagnosis and the second conception, but let us hope the parents spent some measure of time contemplating their choices.

The utopia you suggest “…that we could trust our health care providers to do what’s best for us and our families” is unlikely to ever happen while we remain mortals (forgetting for the moment that some may endow physican’s with demi-god status with accordant rights and responsibilities) and seems to remove the responsibility of action (or inaction) from each of us. My paranoia/sense of diligence is too active to consign to another (however well trained and competent) the decisions that affect me and mine.

I fervently hope you are correct in your belief the Estradas are very loving and caring. That they entered the legal foray to get assistance for their child may be taken as an example of their care. I believe their foray was misguided as was the jury’s verdict. We are not given reason believe that the physician made anything more than one or more professional errors (and perhaps in good faith). Without a more complete understanding of the difficulty of diagnosing the syndrome and the steps taken to arrive at the diagnosis, I would be reluctant to assign a severe financial penalty (even if the physician will not pay from his pockets). Am I overly skeptical in believing that the jury was not informed of the state of the art for this medical diagnosis?

To all,

Thank you for a respectful discussion on a contentious issue.

Best regards,
Patrick

Comment by Hsien

Patrick,

You read my mind. I was going to ask if you’d be ok sharing your thoughtful follow-up comment here.

Given that I don’t know enough about the Estradas and their motivations, it’s hard to say exactly what the circumstances were. Maybe they had an ambulance-chasing lawyer who urged them to pursue this? Or maybe their doctor didn’t give them a favorable impression? I still believe patients should have recourse if they receive inadequate care. I just don’t know if this is one of those cases for sure.

 
 

[...] Eye on DNA explores a case involving genetic testing and “wrongful life.” [...]

 

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