June 15, 2007 (Vol. 27, No. 12)

DNA Testing Shouldn’t Be Impeded Due to Inherent Risk

The value of life is one of the most difficult things to quantify under law. In a wrongful life case, the claim essentially is that the person would never have been born if it were not for someone’s negligence. What is the value of not having been born at all as opposed to an impaired life?

Wrongful life is a recognized claim in only three states, including California. It is asserted by a child who alleges that he or she should never have been born. In most jurisdictions, recovery by a child with a genetic defect as a result of negligence has been uniformly denied on the dual grounds that a legal remedy contradicts the fundamental belief that human life has value, and measuring damages by comparison of an impaired life with nonexistence is impossible.

A wrongful life claim must show that the defendant negligently failed to diagnose and warn the parents that their child would probably be born with a genetic impairment/disability; the child was born with a genetic impairment/disability; that if the parents had known of the hereditary ailment or disability, the mother would not have conceived the child or would not have carried the fetus to term; and the child will have to pay extraordinary medical or training expenses because of the genetic impairment/disability.

Even as the accuracy of genetic testing improves and becomes more common, failures can still occur. Given the complexity and evolving scientific and technological nature of the testing, the source of a misdiagnosis will often be extremely difficult to identify. This was demonstrated in a recent case where several entities were sued for the wrongful life of a child born with a rare genetic defect. One defendant fertility clinic was involved with a relatively new procedure called preimplantation genetic diagnosis (PGD). This procedure involves either the analysis of a certain point on the DNA strand using PCR, or of chromosomes by way of fluorescent in situ hybridization (FISH), to identify genetic defects.

In this case, the child’s mother had PGD genetic testing performed to determine if any of six embryos developed through the in vitro fertilization process were affected with a rare X chromosome-linked genetic defect, of which she was a recessive genetic carrier. As a carrier, she had suffered minor symptoms of the disease. Males with the condition suffer life-threatening and debilitating symptoms. She had the PCR type of PGD performed.

The test results revealed two embryos as being genetically affected males, two genetically affected females, and indeterminate on the remaining two. Based on the results, the mother decided to have both female embryos implanted.

During a routine ultrasound, she learned she was carrying a male fetus. A subsequent amniocentesis confirmed that the male was affected by the genetic defect. She decided to carry the baby to term.

After the child was born, she filed a claim for medical malpractice and wrongful life against various entities involved. Her main assertion was not that the misdiagnosis was a result of a technological failure but rather by human error (sample mixup) or DNA contamination by one or more of the defendants. However, she could not prove within a reasonable medical probability that mislabeling or DNA contamination had occurred, let alone by any particular defendant. DNA contamination could have occurred by negligence or nonnegligence because experts agreed that the contamination risk could not be eliminated even with the best protocols.

There were also other factors that could have caused the outcome that were not the result of anyone’s negligence. One possibility was the PCR procedure’s inherent technological error rate, 3–5%, of which the plaintiff had been informed. Another possibility was mosaicism. Because cells are taken at a stage where the embryo contains approximately 8–12 cells, this rare phenomenon occurs when the extracted cell is not representative of the whole. In other words, one cell would appear to be normal whereas the remaining cells in the embryo would be abnormal or vice versa.

Notwithstanding the philosophically questionable claim for wrongful life, particularly in the context of genetic testing, the continued use of this claim may have wide-ranging legal and economic impacts statewide. Given the rapid expansion of genetic testing such as PGD, this claim may encourage more litigation and discourage advancement based on the unavailability or unaffordability of insurance.

There is also an inherent conflict between California’s wrongful life jury instruction and a woman’s right to terminate a pregnancy. California Civ. Code Section 43.6(b) provides: “The failure or refusal of a parent to prevent the live birth of his or her child shall not be a defense in any action against a third party, nor shall the failure or refusal be considered in awarding damages in any such action.” This conflict is ripe for appellate review and questions the wisdom of the wrongful life claim.

With the increasing use of genetic testing, specifically PGD, how does one protect itself against wrongful life claims? Some experts suggest that PGD should be renamed Preimplantation Genetic Screening, thereby removing the expectation that the test is actually making a diagnosis. That is probably a good start, but more significant changes should be made to protect those involved in PGD at every level.

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.

Facilities involved with genetic testing should conform to generally accepted standards of care applicable to genetic testing and have clear protocols to address each step of the procedure in which it is involved and identify each method it utilizes to minimize risks. These protocols should be reviewed regularly.

The California legislature should reevaluate whether wrongful life should remain a viable claim, particularly since it conflicts with Civ. Code Section 43.6. Along this same vein, the jury instruction for wrongful life should be reexamined in the context of Section 43.6, and courts should take a more active position in disposing of the claims in the context of this important and infinitely beneficial PGD technology.

The state cannot afford to permit litigation to destroy vital technologies because of rare outcomes. PGD has already proven itself to be an essential technology, improving the quality of life for children born free of costly and life-impairing genetic abnormalities, their parents, and the public tasked with paying for the childrens’ care. Should a vital benefit to society be denied based upon a few incidents resulting from known, inherent risks?

Kevin Costello is a partner at the law firm Sedgwick, Detert, Moran & Arnold.
Web: www.sdma.com
E-mail: [email protected].

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