Legal Review & Commentary
Botched genetic testing yields massive verdict of $50 million
By Damian D. Capozzola, Esq.
Law Offices of Damian D. Capozzola
Jamie Terrence, RN
President and Founder, Healthcare Risk Services
Former Director of Risk Management Services (2004-2013)
California Hospital Medical Center
Angelina Gratiano, Esq.
Manhattan Beach, CA
News: A young child was diagnosed with an unbalanced chromosomal translocation, a chromosomal abnormality resulting in the need for 24-hour care throughout his life. Before his birth, his parents had requested prenatal genetic testing to detect the genetic disorder, but they were informed by the hospital and laboratory responsible for the testing that the fetus tested negative for the abnormality. In actuality, the fetus had the chromosomal abnormality. Two years after giving birth to the young boy, the parents brought suit against the hospital and the genetic testing facility, and they alleged wrongful birth. At the conclusion of a seven-week trial, the jury returned a verdict against the hospital and laboratory. It held both joint and severally liable for $50 million.
Background: After a couple received news from their local hospital's genetic counselor that the fetus the wife was carrying tested negative for a hereditary chromosomal abnormality, the married couple decided to carry out the pregnancy. The husband was aware, based on genetic testing he had done previously, that he was a carrier for a chromosomal abnormality specifically involving the translocation of chromosomes 2 and 9. While the father was a carrier for the disorder, he expressed no phenotypical traits and was told there was still a 50% chance that he would pass this abnormality on to his child. Transmitted to an offspring, this abnormality results in a child requiring 24-hour care along with various other serious health complications throughout the duration of their lives. Additionally, this disorder does not necessarily result in a shorter lifespan but rather a generally normal lifespan for the affected person. Sadly, the genetic results provided to the couple were incorrect; the fetus did have the genetic abnormality and was subsequently born needing lifelong 24-hour care.
The parents were understandably baffled as to how this situation could have happened. While consulting with the genetic counselor for a local hospital, the couple had decided that they would not carry out the pregnancy if the child tested positive for the chromosomal abnormality. A specific genetic test thus needed to be ordered on a blood sample obtained from the fetus. Also, and importantly, a detailed family history of the mother and father was supposed to be submitted with the blood sample. This family history information, including symptoms and characteristics of how the abnormality presented itself in affected family members of the father, was especially critical.
Also included in this history should be the nomenclature of the abnormality, or the "GPS" coordinates of the abnormality, so that the genetic laboratory technicians know specifically where to look for it. These kinds of details are vital to genetic testing for chromosomal abnormalities because they ensure that the laboratory testing the blood samples, as well as the genetic counselors, is sure about what the results indicate. In this case, the mother and father arranged for the family history to be faxed to the genetic counselor in advance of their appointment, and they brought in a hard copy as well.
However, the genetic counselor at the hospital failed to provide the laboratory conducting the genetic testing with the necessary family history paperwork. Upon receiving the blood sample from the genetic counselor, the laboratory failed to inquire as to why the necessary family history paperwork was missing. Consequently, the laboratory technician carried out testing on the blood sample but did not specifically analyze the areas on chromosome 2 and 9 that caused the genetic abnormality in question. To make matters worse, the technician analyzing the blood sample was a trainee and per the protocol of the laboratory, a supervisor is required to review all reports generated by the trainees to ensure accuracy. However, the report was not reviewed by a supervisor prior to sending it out to the hospital's genetic counselor. Thus, the genetic counselor then informed the parents, incorrectly, that the fetus did not have the chromosomal abnormality.
After realizing their newborn was in fact tragically affected by the chromosomal abnormality, the parents and the child, through his court-appointed guardian ad litem, brought suit for wrongful birth against the hospital that employed the genetic counselor and the laboratory responsible for providing the results of the genetic testing. At the conclusion of the eight-week trial, the jury deliberated for one and one-half days before finding the hospital and laboratory jointly and severally liable for $50 million dollars. These damages include the extensive 24-hour care required to adequately take care of the young child through adulthood.
What this means to you: Discussions about genetic testing with patients are never easy because of the serious ramifications the results pose. In this case, the married couple's decision to carry out the wife's pregnancy depended on the results of the genetic testing. It is imperative that the greatest care be taken when consulting, discussing, and eventually reporting genetic testing with patients. All necessary information must be supplied to the genetic testing laboratory to ensure that the results are reported accurately based on accurate information. The genetic counselor did not take the time to ask the testing laboratory staff the right questions to ensure that they had the information needed to complete the ordered test accurately. (Note that genetic counselors generally are neonatologists.) Likewise, the laboratory failed to notify the hospital about the missing information or inquire as to why it was missing. With the life of the fetus dependent upon the results of this test, all steps available to avoid result discrepancies should have been taken.
Also, training of new employees must be supervised closely. From intake coordinators, to residents and fellows, it is that supervisors responsible for overseeing training remember to double-check and review a trainee's work. In this case, failure to properly review a trainee's report resulted in the reporting of genetic testing results with absent family history information. Had a supervisor reviewed these results, the supervisor would have realized that the laboratory was missing the necessary information to focus the genetic testing on the particular areas of chromosome 2 and 9. By ensuring proper supervision of trainees, mistakes like this one can be caught ahead of time and corrected.
Additionally, it is essential for hospitals and physicians (neonatologists) to order their genetic testing through a reputable genetic testing laboratory that remains in good standing with all required compliance agencies. By doing so, the hospital and physician ensure to the best of their knowledge that accurate reports are being provided to patients. Also, it is not uncommon for some medical professionals to order more than one genetic test by separate companies to further verify the validity of genetic testing results. While this might not be an option for everyone, it might be advisable to ensure that the results are 100% accurate and consistent.
Healthcare professionals must be keenly aware of how genetic testing results impact crucial life decisions for families. For this reason, the role of a dedicated genetic counselor is significantly important. In this case, the hospital made cuts to their budget, which in turn limited funding allocated to the maternal fetal medicine clinic. Due to the budget cuts, the maternal fetal medicine clinic employed a genetic counselor from a neighboring hospital once a week. This situation proved to be problematic because it likely produced an overly burdensome workload for the counselor. In contrast, similar medical centers in the county employ their genetic counselors full-time, which allows for a more reasonable workload and a better guarantee of daily follow-up with patient's matters. While it is often difficult to control major budgetary decisions, it is important to ensure that current employees have a reasonable workload to ensure proper patient follow-ups.
At times, healthcare professionals have little choice in deciding which laboratory to use when ordering genetic testing because of patents on DNA testing. This situation can become problematic when doctors and hospitals need to order a specific genetic test. Most recently, the United States Supreme Court handed down a decision in June 2013 determining what exactly can be patented regarding DNA testing and sequencing in the Association for Molecular Pathology v. Myriad Genetics case. In that case, a genetic testing company obtained patents for the isolation of certain DNA segments and methods used to determine the propensity for developing cancer based on analysis of mutated DNA segments. These patents limited medical professionals and patients because only a specific company was able to process a certain genetic test to determine cancer propensity in patients. Furthermore, the out-of-pocket price for these tests could be thousands of dollars because the companies holding the patents had no competition in the market, which would have helped to reduce the price for these tests. Proponents of these patents argue that patents encourage investment in biotechnology and help to promote the sharing of ideas that otherwise would be kept secret in isolated research labs. On the other hand, opponents of the patents claim that the patents actually prevent research innovation because the patents by their very nature prevent projects based on patented DNA.
Ultimately, the United States Supreme Court held that a DNA segment cannot be patented even if it is isolated because it is naturally occurring in nature. However, DNA segments that are not naturally occurring — for example, modified DNA such as DNA synthesized from messenger RNA — still may be patented. While this decision was definitely a relief to healthcare providers, researchers, and patients, there might be issues in the future with modified DNA patents. The question remains as to exactly how much modification is sufficient to allow for a patent.
- Case No. 10-2-43289-2 KNT, Superior Court of King County, King County, Washington, Dec. 10, 2013.