Medicolegal Issues

How prenatal genetic testing protects patients—and you

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Misinterpreted or incomplete genetic testing does not serve the patient—and is likely to spark a lawsuit



The author reports no financial relationships relevant to this article.

CASE 1 ObGyn fails to scrutinize test results

A woman consulted board-certified ObGyns during the first trimester of her pregnancy and informed one of them that she had recently been given a diagnosis of measles, but was unsure whether the illness was German (rubella virus) measles. The physician examined her and ordered a rubella titer. The results, he noted, “were indicative of past infection.” Instead of performing further testing, he told the patient she “had nothing to worry about because she had become immune to German measles as a child.”1

Soon after birth, her child was diagnosed as suffering from congenital rubella syndrome, including eye lesions, heart disease, and auditory defects.1

Apparently, the physician had failed to consider whether the positive test result was indicative of current, rather than past, infection—and failed to perform further testing to determine whether the titer was falling, stable, or rising.

Is he legally liable for this omission?

The physician in this case violated a simple tenet: If a test is ordered, the clinician must be able to interpret the results or order further testing to ensure that the patient is given valid advice. This physician’s error was compounded by the fact that the patient had notified him of the potential for fetal injury.

Would he be held accountable in a court of law?

The answer to that question depends on:

  • the state in which the case arose, and the laws in effect at the time of the incident
  • the action initiated by the plaintiff and her attorneys, which may involve “wrongful birth,” “wrongful life,” or other allegation
  • the time that transpires between the genetic test (or diagnostic test, such as a rubella titer) and the legal case—in other words, the statute of limitations. In some cases, this period encompasses the time elapsed between omission of a test (or birth of a child) and the filing of a legal claim.
In this article, I highlight three pertinent legal cases and the lessons to be learned. Because national legal case reporters generally publish opinions from appellate courts, they usually focus on determinations of law, with factual determinations and decisions on liability remanded back to the trial court.

For the purposes of this article, I assume that the facts in the judicial opinion are correct, but focus on legal principle.

Don’t overlook the patient when planning prenatal tests

Patient testing: ethical issues in selection and counseling. ACOG Committee Opinion No. 363. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2007;109:1021–1023.

Knowledge can be a dangerous thing. At the very least, a bid for genetic data requires careful consideration and preparation, particularly when the information may determine whether a woman continues or terminates her pregnancy.

In April, the American College of Obstetricians and Gynecologists published a Committee Opinion on ethical considerations in the selection and counseling of patients in regard to testing. Although the opinion concerns testing in general—rather than prenatal genetic testing specifically—a number of recommendations are applicable to both:

  • Perform testing for the benefit of the patient, not simply because a third party—e.g., her partner, extended family, employer, insurer, or health-care provider—deems it to be necessary. Ensure that she gives consent before proceeding.
  • Do not base testing decisions on assumptions about how the patient will respond. “Prejudgments about a patient’s wishes regarding fetal abnormalities, for example, should not preclude her being offered prenatal testing,” the opinion states.
  • Tell the patient how the results will be communicated, and to whom.
  • Provide or refer the patient for specific counseling whenever planned testing may have multiple medical or psychological implications.
  • Respect the patient’s autonomy and involve her in decision-making. If she elects to forego a recommended test, document her refusal in the medical record—and include the reason.

Detectable genetic disorders have increased exponentially

Almost any health-care provider encounters patients who have inheritable disease. Cases have arisen against an oncologist for failure to convey to the patient the potential for genetic transmission of colonic polyposis and against a surgeon for failing to warn a young breast cancer patient that she may carry genes that predispose her offspring to ovarian cancer. But the highest-risk category is reserved for the obstetrician, who must, on a daily basis, consider the need for appropriate screening and proper counseling about the availability of genetic testing that may enable the patient to avoid passing catastrophic disease to her children.


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