Focus on Genetic Testing
Sep 13, 2019
By: Lisa Rinehart, R.N., B.S.N., J.D.
Origin: ASRM News September 2019
Litigation involving mistakes in genetic testing outcomes or reports are not new, but the exponential increase in genetic testing in assisted reproductive technologies, including carrier screening, PGT, using mosaic embryos and the potential for gene-editing, has fueled new genetic-based lawsuits and variables. This guest column focuses on recent genetic testing related cases, and the impact they may have on reproductive medicine professionals in the field.
Published reports demonstrate a slow, but growing, rise in genomic malpractice cases from 1977-2016, attributed to more creative causes of action (making risk management more difficult) and higher awards in the successful cases. (1) The field of genetics continually raises many novel questions for reproductive medicine while pushing the limits of current practice. Until the law has caught up to establish clear standards and duties of care regarding genetic technology, legal guidance remains in the hands of individual court cases, with potentially inconsistent results.
The following cases illustrate the challenges of providing legal guidance in such a rapidly evolving field.
Negligence in Testing and Evolving “Genetic” Standard of CareMost medical malpractice cases are adjudicated on the basis of whether the defendant healthcare provider met the current, applicable standard of care. The standard of care is established by the acts of a reasonable physician and a reasonable patient, current law in the particular jurisdiction and professional guidelines, expert testimony and the availability/use of current medical technology. However, with the increased use of genetics in reproductive medicine, establishing a “genetic standard of care” in infertility is much more difficult. Genetic technology and its use are light years ahead of laws and guidelines. Technologies may exist but not be readily available or used routinely – therefore, does “available” mean “must test?” Genetic experts are few and they may not agree. The duty of care (which was once easily identified between the physician and his/her patient and typically during an episode of care) may now much more frequently extend to family members and unborn children. The latter becomes even more challenging due to the long shelf-life of genetic material such as frozen eggs and embryos.
Alvarez v. Women’s Total Care Medical Clinic, (2) a 2017 lower California court, dealt with whether a physician met the standard of care in prenatal screening. In 2012, Ms. Alvarez’s son was born with Down syndrome. Alvarez subsequently filed a wrongful life suit, claiming (in part) that her OB/GYN failed to provide her with information on genetic testing, including maternal serum alpha-protien testing, and failed to screen for and diagnose a defective fetus which denied Alvarez the option of terminating the pregnancy. Alvarez was 44 years old when she became pregnant and sought obstetric care. After perfoming fetal ultrasounds (which showed no abnormalities), the OB/GYN referred Alvarez to his colleague for additional ultrasound monitoring and genetic counseling due to her advanced maternal age. Medical records indicate that Alvarez met with the referral physician who offered her an amniocentesis and other testing, but Alvarez declined. The defense argued that the OB/GYN met the standard of care required to avoid the exact outcome that occurred – the birth of a child with genetic abnormalities. The jury found for the defendant stating that there was no negligence.
The Alvarez case reinforces the emerging “genetic” standard of care that was discussed in a 2008 Texas medical malpractice case. (3) In Findley-Smith v. Smith, an intermediate appellate court decision, the Ms. Smith sought medical advice from the defendant obstetrician about pursuing a pregnancy as she had a family history of cerebral palsy and hydrocephalus in two male relatives. The defendant told her that hydrocephalus was not hereditary and did no further prenatal screening or testing (this fact was disputed at trial). Ms. Smith subsequently became pregnant and gave birth to a son with hydrocephalus, which led to her claim of medical negligence. The court found that the defendant breached the standard of care and clearly stated that - even before testing - when a history of conditions which may have a heritable etiology is revealed, a physician has a duty to discuss available testing for such etiology, or refer the patient to a specialist (genetic counselor or maternal fetal medicine physician) who can better provide testing, counseling and care.
“VUS”: Mistaken Cancer Gene Reporting in Variants of Unknown/Uncertain SignificanceA term known to the oncology field is moving to reproductive medicine and deserves independent consideration. It involves genetic testing that reveals genetic mutations whose disease impact is not currently identifiable. A Variant(s) of Unknown/Uncertain Signficance (VUS) may be benign, pathogenic, or a complete mystery. With more explicit genomic sequencing available, it’s inevitable that more such variants will be identified. VUS rate reports vary greatly by laboratory with a 2014 study on inherited cancer susceptibility discussing VUS report rates as low as 3% and as high as 33% (4). The good news is that as more information on VUS is learned and shared, the rates of VUS will decrease, as will the risk for liability in this area. Until that occurs, reporting a genetic mutation leads to consequences in treatment decisions for physicians and anxiety and stress for patients dealing with an unknown; and the current neither “‘yes” nor “no” position is creating lawsuits.
Cooke-Moore v. Curry Medical Practice and Curry Medical Center, (5) involves a 2017 claim from Oregon of medical malpractice/negligence and battery against OB/GYN physicians, their clinic and nurse practitioner after the misdiagnosis of a VUS on a patient with a family history of breast cancer. Ms. Cooke-Moore underwent testing to determine her risk and, after being told that her test results indicated she had Lynch Syndrome (an inherited cancer syndrome that predisposes an individual to colorectal, endometrial and other types of cancer), she underwent a prophylactic bilateral mastectomy and hysterectomy. After post-surgical complications sent her to a second physician, she learned that her records revealed a benign VUS and not the positive gene mutations for Lynch Syndrome. Her previous physician and his staff had misinterpreted the significance of the report which led to her surgeries. The case settled for approximately $600,000.
Williams v. Quest (Athena) Diagnostics, (6) a 2018 case still pending in South Carolina on procedural grounds, directly addresses whether a genetics lab may be considered a healthcare provider for medical malpractice purposes. Williams involved a wrongful death suit against a subsidiary of Quest Diagnostics. Ms. Williams’ infant son suffered from seizures and had genetic testing performed by Athena in 2007. He subsequently died in 2008. The report, which Ms. Williams did not see until 2014, showed a VUS with unclear links to Dravet Syndrome, a rare epileptic condition. Athena’s policies for reporting a “known disease-associated mutation” required a finding of a published report, and, in 2007 there was a published case linking the identified gene mutation to Dravet’s Syndrome (and Athena’s lab director was one of its authors). Apparently, Athena did not follow its own classification criteria for establishing a VUS in this case The mother’s claims allege that the lab was negligent in its reporting and that the error was causative in her son’s death as the treating physicians were unaware of her son’s true disease state and used medication in his treatment that actually exacerbated her son’s seizures. While this case is still examining whether Williams’ claim will fail due to the statute of limitations, an interesting question was answered by the South Carolina Supreme Court in the affirmative. The court found that genetic testing laboratories are healthcare providers against which plaintiffs can bring a medical malpractice claim, as they perform diagnostic tests at the request of a patient’s physician to assist in diagnosing a disease.
Reproductive Genetics and the LawThe lawsuits discussed above emphasize the need for expertise in interpreting and explaining VUS – both to providers and patients, while the first case highlights the difficult task of assessing standard of care in this continually expanding area of reproductive genetic testing. Arguably, the only way to maximize the usefulness of this genetic data and to minimize the risks of potential liability is to improve data-sharing about such mutations. Without a current centralized, clearinghouse for genetic data, providers must rely on adjunct resources such as medical genetisits and genetic counselors to help in interpreting and discussing genetic information with patients.
1 Marchant, G and Lindor, R, Genomic Malpractice: An Emerging Tide or Gentle Ripple?, Food and Drug Law Journal, Vol. 73, No.1, 2018: 1-37.
2 Alvarez v. Women’s Total Care Medical Clinic, 17CV02437, (Santa Barbara Cty, heard September 6, 2017)
3 Findley-Smith v. Smith, No. 01-07-00360-CV (Tex. App. Feb. 28, 2008)
4 Fectau, H. et. al, The Evolution of Cancer Risk Assessment in the Era of Next Generation Sequencing, J Genetic Couns. Vol 23 No.4 (2014) 633-39.
5 Cooke-Moore v. Curry Medical Practice and Curry Medical Center, 17CV46203 (Cir. Ct. Ore, filed October 19, 2017)
6 Williams v. Quest Diagnostics, Inc., 816 S.E.2d 564 (So. Car. 2018)