Journal of the Kentucky Medical Association, Vol. 103, No. 4, p. 159 (April 2005)
In the last decade, several courts throughout the country have allowed claims to proceed against a physician based upon an alleged failure by the physician to properly notify family members that a patient has an inheritable disease. With advances in genetic medicine, this trend is likely to continue.
For an increasing number of diseases, testing can predict when a particular patient has a greater likelihood of developing the disease, or of being a carrier. An example is Fragile X syndrome, one of the most common forms of mental retardation. It is a single-gene disorder associated with a repetitive codon on the FMR1 gene, which is located on the X chromosome. Carriers have an abnormal number of these repetitive codons (55 to 200 repetitions). While at risk for having a child with the syndrome, typically carriers themselves are unaffected. Discovering Fragile X Syndrome: Experiences And Perceptions, Pediatrics, Volume 111, issue 2, p.407 (February 1, 2003).
Suppose a pediatrician treats a child for developmental disabilities that are possibly associated with Fragile X syndrome. Does she then owe a duty to inform the parents of that child that testing exists to determine if they carry the gene mutation associated with the syndrome?
According to the Minnesota Supreme Court, she may. Based upon a recent opinion by that court, Minnesota has joined at least four other states (California, Florida, New Jersey, and Colorado) in holding that a physician may be required to advise family members when a patient’s genetic testing results could affect those family members. One such example could be where the patient suffers from a genetic condition which the family members may have inherited themselves, or where the family members may be a carrier for the particular disease.
Kentucky courts have not yet ruled on this specific issue.
Minnesota joined those other jurisdictions on May 20, 2004, when its Supreme Court decided Molloy v. Meier, M.D., Minn., 679 N.W. 2d 711 (2004). Dr. Meier, a pediatrician, treated Mrs. Molloy’s minor daughter for developmental delays. Mrs. Molloy informed Dr. Meier that her half brother was mentally retarded. Dr. Meier ordered chromosome testing on Mrs. Molloy’s minor child. She did not, however, recommend testing for Mrs. Molloy. Nor did the testing that she ordered specifically test for Fragile X syndrome. The results of the chromosome tests were negative.
Later, Mrs. Molloy gave birth to another child, who was similarly disabled as the sister. Mrs. Molloy and the two children then underwent genetic testing, which identified all of them as carriers of the genetic mutation associated with Fragile X syndrome.
Mrs. Molloy sued Dr. Meier alleging that she failed to properly order and interpret genetic testing, and that she failed to provide adequate genetic counseling to the parents. The lawsuit further alleged that the parents would not have conceived another child had they known that their first child had Fragile X syndrome, and that the mother was a carrier.
The Minnesota Supreme Court held that the case should proceed to a jury trial. It ruled that “a physician’s duty regarding genetic testing and diagnosis extends beyond the patient to biological parents who foreseeably may be harmed by a breach of that duty.” Id. at 719. The Court reasoned that the field of genetic counseling is rapidly evolving, with new methods of testing becoming more practical and reliable. Id.
The Court also anchored its decision on the perception that genetic testing and diagnosis does not affect only the patient. It accepted the argument that a patient’s family members rely on physicians to communicate information about the patient’s genetic disorder to the family members. According to the Minnesota Supreme Court, this reliance makes it foreseeable that a negligent failure to diagnose a genetic condition like Fragile X syndrome may cause harm not only to the patient (the child), but to the parents of the patient as well. Id.
Molloy involved a physician’s duty to communicate with a patient’s parents, as opposed to a patient’s siblings or children. But other states have found that a physician may owe a duty to communicate — directly or indirectly — with family members other than parents.
For example, in Pate v. Threlkel, M.D., Fla. 661 So.2d 278 (1995), the Supreme Court of Florida held that a physician owed a duty to take reasonable steps to warn his patient and the patient’s adult child that the mother’s disease, medullary thyroid carcinoma, was genetically transferable to her offspring. The Court reasoned that “when the standard of care creates a duty that is obviously for the benefit of certain identified 3rd parties and if the physician knows of the existence of those 3rd parties, then the physician’s duty runs to those 3rd parties.” Id. at 282.
Kentucky courts have not published an opinion dealing with the exact questions presented in cases like Molloy and Pate. Recently, though, Kentucky’s Supreme Court decided a case that did involve an alleged failure to correctly test for, and diagnose, congenital birth defects. Grubbs v. Barbourville Family Health Center, Ky., 120 S.W. 3d 682 (2003) (rehearing denied, December 18, 2003).
The Court in Grubbs held that a physician owes a duty to provide a reasonable diagnosis. This includes advising of all known risks associated with the diagnosis, so that the patient can intelligently decide regarding a proper course of treatment. (However, the Court also held that the physician’s alleged negligence did not produce any injury in the legal sense, because even if the birth defect had been fully diagnosed on ultrasound or subsequent testing, no treatment could reverse those effects.)
Regarding the alleged failure to diagnose the birth defects, the Court described the physician’s role this way:
“The relationship of a patient to his physician is by nature one of the most intimate. Its foundation is the theory that the physician is learned, skilled, and experienced in the afflictions of the body about which the patient ordinarily knows little or nothing but which are of the most vital to him. Therefore, the patient must necessarily place great reliance, faith and confidence in the professional word, advice, and acts of his doctor. It is the physician’s duty to act with the utmost good faith and to speak fairly and truthfully at the peril of being held liable for damages for fraud and deceit.”
Id. at 687.
The particular facts and issues presented in Grubbs did not require the Court to address whether this duty would apply outside the confines of the physician patient relationship. But someday the Kentucky Supreme Court will likely decide a case presenting such an issue.
All of the cases mentioned so far arose before April 14, 2003. That is when the Privacy Rule of the Health Insurance Portability and Accountability Act of 1996 (“HIPAA”) became effective. The Privacy Rule establishes federal protections for the privacy of protected health information, by requiring physicians and other health care providers to protect against the unauthorized disclosure of their patients’ individually identifiable health information. Thus, on its face, the privacy rule may justify a physician who decides not to inform parents, children, or siblings about the results of the patient’s genetic testing.
But would HIPAA completely justify such a decision in all circumstances? Consider that in Pate, the Florida Supreme Court observed that the physician could have simply encouraged his patient to tell her children that her disease is genetically transferable. Even in the post HIPAA world, there is no rule against encouraging the patient himself to advise family members about the results of his genetic testing, including what those results could mean for the family members and the availability of testing.
Also consider that a patient may waive the protection created by the privacy rule, thus permitting the physician to inform family members (or whomever the patient designates) about the patient’s condition and the ramifications.
Thus, a physician faced with a situation similar to those in Molloy or Pate should consider the following approach:
1. Inform the patient as fully and in as detailed a manner as possible of the diagnosis, the genetically transferable nature of the condition, and all ramifications.
2. Inform the patient that other family members may have inherited the same genetic condition the patient has, which would be associated with a predisposition to, or greater likelihood of having, that particular disease.
3. Document in the file the advice given to the patient.
4. Request the patient to sign an authorization allowing the physician to report the results of the genetic testing to family members.
5. If the patient refuses to sign an authorization, counsel the patient to inform family members of the results of the patient’s testing, and that such testing is also available to them.
6. If the patient refuses to sign an authorization, request him to sign a written statement documenting the advice given, and that the patient has chosen to exercise his rights under HIPAA, and has instructed the physician not to communicate with family members regarding the patient’s genetic testing.
7. Write to the patient, again explaining the above mentioned items, and encouraging the patient to advise his family members as mentioned above.
The merger between patient privacy and genetic testing presents competing interests and creates difficult choices. The approach mentioned above offers a practical way for a physician to fulfill his role as healer while obeying the law. Also, if one of those family members ever did file a lawsuit, like the daughter in Pate, the case will be more defensible if the physician can document the advice to the patient, and that the patient’s decision to exercise her rights under HIPAA is the reason why the family members were not informed.
Steve Hall is a former research chemist, and a life sciences and technology attorney with the Louisville, Kentucky law firm of Stoll Keenon Ogden PLLC. He is a registered patent attorney. He focuses on many aspects of technology development, commercialization, and litigation. These include patentability and freedom to practice, risk management, commercial litigation, and defense of product liability litigation.