Lessons learned
Among the lessons to be gleaned from these cases are:
- Be sure that you understand the limits of any test that you order, and convey those limits to the patient.
- When you inform a patient about a planned test, that test should be completed. If it is not, explain the failure to perform the test (or the lost result, etc.) to the patient so that she can act accordingly. In that regard, a laboratory or other facility can be held liable for a negligently performed test or, as was the case in one lawsuit, a sperm bank may be liable for failing to inform the recipient of donor sperm that the donor had a positive family history of renal disease (i.e., autosomal-dominant polycystic kidney disease).5
- Be aware that, as the amount of information available in the popular literature and on the Web expands, patients will come to question their care more often. An example: A patient recently brought an action against her health-care provider because vitamins containing folate were discontinued shortly before she became pregnant, and the child was born with a neural tube defect.6
- Most court cases, including those cited in this article, are based on the credibility of witnesses recollecting events. Well-documented, legible records written contemporaneously with an event are of enormous benefit in cases involving sometimes widely divergent recollections. When health care meets appropriate standards and is well documented in the records, most plaintiffs’ attorneys will not undertake what can be protracted and expensive litigation. When they do, the health-care provider usually prevails.
What’s the standard of care in genetics? And where are the pitfalls?
Aubrey Milunsky, MD, DSc, DCH
The standard of expected care in clinical genetics is generally the same across most medical specialties. That standard is compounded in obstetrics, however, by critical considerations in three areas in the spectrum of care: future conception, ongoing pregnancy, and postnatal implications. Although guidelines and committee opinions on genetics-related care that are issued by professional societies, such as ACOG, are important in practice, they do not, in fact, set the actual standard of expected care—as those issuing bodies have emphasized in their statements.
Mostly, it is expert opinion that informs a jury about the standard of expected care in genetics. And, ultimately, any action (or inaction) taken by a jury is judged according to what the average, prudent physician would do under the circumstances in question.
Errors tend to be basic
Medical negligence claims relative to genetics in obstetrical practice are usually not a complex matter of failure—for example, failing to diagnose an isodicentric chromosome, misinterpreting a copy number genome variation, mistaking a gene polymorphism as a disease-causing mutation, and failing to order a micro-deletion analysis when a gene sequence is reportedly normal. Rather, errors are usually basic and, invariably, not single; often they result in serious consequences. Space allows only a few, brief (and arbitrary) examples here of where pitfalls can be found:
- genetic counseling
- laboratory interactions
- group practice
- knowledge of practical genetics.
Genetic counseling Simple but critical matters in this area of office practice include taking a family history and not ignoring potential implications in that history of mental retardation, congenital malformations, genetic disorders, specific cancers, and ethnicity. These clues should alert you to offer diagnostic or carrier tests or to refer the patient for a genetics consultation.
Some OBs have the benefit of genetic counselors in their practice, but fail to realize that these members of the staff, albeit very valuable, are not the full and final repository of knowledge about genetic disease. Failure to offer a test, failure to refer for a genetics consultation, and failure to provide accurate information on risk and recurrence all invite litigation.
Laboratory interactions Errors by the office clinician abound in this area. They include failure to obtain the result of a lab test, to provide timely communication, to order the correct test, and to advise the lab about the specific indication for the test (such as a subtle translocation) and misinterpretation of a test result.
Group practice brings with it much benefit but significant risk, too. Assuming that one of your colleagues checked a lab result or communicated important information, without you—personally—having checked the record or obtained the result, can lead to catastrophe. Exercise great care, therefore, in overseeing how lab reports return to the office; who sees them; how, and by whom, they are filed; who is informed, and how, about an abnormal report; and what type of documentation the practice insists upon. Suffice it to say: This territory is replete with litigation.
Knowledge of practical genetics requires your continual learning. Failure to realize (or determine) that a disorder or defect is genetic inevitably raises problems. A lack of awareness of basic advances in medicine—such as preconception folic acid supplementation that provides 70% protection against a neural tube defect—may come to light only after a child is born with spina bifida.
Seek support in your work
Obstetrical practice is exciting and gratifying, but it is ever more challenging in light of the dramatic and continuing advances in human genetics. It is impossible for a busy clinician to keep up with the massive torrent of new information on genetic disease. When possible, establishing linkage—even by telephone—with a clinical genetics group could provide you with the opportunity to practice within the standard of expected care, and without unnecessary anxiety.
Dr. Milunsky is Professor of Human Genetics, Pediatrics, Pathology and Obstetrics and Gynecology, and Director, Center for Human Genetics, Boston University School of Medicine, Boston, Mass. He reports no financial relationships relevant to this article.