Genetic Testing: Disclosure to Patients and Payors and the Risks In Between

Genetic Testing

Upon publication of the full human genome sequence in April of 2022, those in the field of genome research emphatically recognized the immense influence this would have on the study of human disease.¹ In line with this prediction, ever-increasing technological advances have allowed health care to “transition[] from genetics to genomics, in which single-gene testing for diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other multi-genetic tests for disease diagnosis, prediction, prognosis, and treatment.”² Due to the breadth of information revealed, genomic testing ordered with the goal of identifying risk for a specific disease or condition, may inevitably show a more complex picture, placing the physician in a position to determine what specific findings to disclose to the patient.

Fiduciary Relationship

A unique relationship exists between physicians and their patients. This relationship is predicated on a knowledge imbalance, with the more vulnerable patient being in a position of reliance on the physician to convey information and direction. Fiduciary relationships have long been legally recognized for the purpose of protecting a more vulnerable party who must rely on the honesty and care of another.³ It is fitting then, that courts have established that a fiduciary relationship exists between physician and patient.⁴ “A physician occupies a position of trust and confidence as regards his patient—a fiduciary position. It is his duty to act with the utmost good faith. This duty of the physician flows from the relationship with his patient and is fixed by law[.]”⁵ The medical profession has similarly acknowledged that fiduciary duties exist in the physician-patient relationship: “The relationship between a patient and a physician is based on trust, which gives rise to physicians’ ethical responsibility to place patients’ welfare above the physician’s own self-interest or obligations to others, to use sound medical judgment on patients’ behalf, and to advocate for their patients’ welfare.”⁶

Informed Consent

Trust is an essential element of the fiduciary relationship between physician and patient. The practice of shared decision making is crucial in establishing and maintaining trust between these two parties. Further, competent individuals have a legal right to decide what will be done to their bodies by making their own health care decisions.⁷ By its very definition, shared decision making requires physicians to provide patients with the information necessary to make informed choices regarding their care and treatment.

Hence, the legal doctrine of informed consent was created with the aim of ensuring that these principles can be met. “The root premise is the concept, fundamental in American jurisprudence, that ‘[e]very human being of adult years and sound mind has a right to determine what shall be done with his own body. . . .’ [W]e ourselves have found . . . ‘the physician’s duty to reveal to the patient that which in his best interests it is important that he should know.’”⁸ Other cases have analogized informed consent to include a materiality standard in the duty to disclose: “If a reasonable person in the position of the plaintiff would consider the information important in choosing a course of treatment[,] then the information is material and disclosure required.”⁹

Malpractice

Generally speaking, breach of a fiduciary duty, often expressed as breach of the duty of care or the duty to inform, is a primary element in establishing negligence, which serves as the foundational analysis for malpractice.¹⁰ The existence of a physician-patient relationship, which, as discussed above, establishes fiduciary duties, is often used by courts to implicate a physician for breaching a duty.¹¹

The few cases that have explicitly discussed the duty to inform or disclose in the context of genetic or genomic testing have, at times, considered a breach of this duty to constitute malpractice. In Houser v. Kaufman, a physician failed to disclose genetic test results to a young female patient. When the woman later gave birth to a disabled child, the court “held that the physician had no duty to the son, as too much time had gone by, but the mother was permitted to recover in medical malpractice for her injuries as a result of the missed diagnosis[.]”¹² Here the court explicitly recognized, that if “the original patient him- or herself is directly harmed and sustains injury if a positive . . . test result is not conveyed[,] . . . the patient may state a claim for malpractice against the doctor.”¹³

Further, in Walker v. Sonora Regional Medical Center, the court considered a case involving claims against a physician who failed to disclose that the patient “tested positive as a carrier of cystic fibrosis.”¹⁴ Here, in essence, the court recognized that “when a laboratory test is ordered by a patient’s physician, there is an existing patient-physician relationship with respect to the subject matter of the laboratory test[,]” which obligates the physician to disclose the results directly to the patient.¹⁵ Moreover, in some cases, the duty to disclose has been found to include a patient’s relatives, with the court emphasizing that “in any circumstances in which the physician has a duty to warn of a genetically transferable disease, that duty will be satisfied by warning the patient.”¹⁶

There have also been analogous cases involving other forms of testing. In Downing v. Grossmann, malpractice claims were brought against a physician who “failed to disclose to patient that a kidney mass had been detected on computerized tomography (CT) scans taken while treating patient for other conditions.”¹⁷ In Buck v. Charletta, the “[h]usband of patient who died from lung cancer filed wrongful-death medical malpractice action against radiologist” for not reporting a finding that the radiologist thought might show a malignant tumor on an MRI that was ordered to assess an unrelated orthopedic condition.¹⁸

Disclosure of Genetic Information to Insurers

With access to genetic information more widely available, there is also an issue of whether the law provides any protection for individuals not to disclose if they have a high risk of diseases to insurance carriers to avoid higher premiums or denial of insurance. In some instances, the law protects individuals from such disclosures. For example, health plans are prohibited from asking for genetic information when individuals apply for health insurance or change policies. Additionally, individuals can restrict providers from disclosing protected health information (“PHI”) to health plans where the disclosure is for payment or health care operations purposes, and the restriction pertains solely to the item or service for which the health care providers involved have been paid out-of-pocket in full. That said, the law does not prohibit other insurers such as disability, life, or long-term care insurers from asking questions related to genetic information and genetic testing. In those instances, the information can be used to determine coverage or premiums. The applicable law is discussed in more detail below.

The Genetic Information Nondiscrimination Act (“GINA”), the Patient Protection and Affordable Care Act (“ACA”), and the Health Information Technology for Economic and Clinical Health Act (“HITECH Act”) and subsequent modifications have helped to strengthen an individual’s privacy protections and reform how health information such as genetic information, may be used by health insurers. Federal regulations define “genetic information” to include information about genetic tests of an individual or family member; the manifestation of a disease or disorder in family members of such individual; or any request for, or receipt of, genetic services, or participation in clinical research which includes genetic services, by the individual or any family member of the individual.¹⁹ A “genetic test” means analysis of DNA, RNA, proteins, or metabolites, if the analysis detects genotypes, mutations, or chromosomal changes; however, it does not include an analysis of proteins or metabolites that is directly related to a manifested disease, disorder or pathological condition.²⁰

Title I of GINA prohibits discrimination based on an individual’s genetic information in health coverage.²¹ Specifically, GINA prohibits group health plans, health insurance issuers, and issuers of Medicare supplemental policies from increasing premiums, requesting or requiring an individual or family member to undergo genetic testing, or requesting genetic information prior to enrollment.²² Section 105 of Title I required revisions to the Health Insurance Portability and Accountability Act (“HIPAA”) Privacy Rule to provide new privacy protections for genetic information such as clarifying that genetic information is health information, and to prohibit group health plans, health insurance issuers (including HMOs), and issuers of Medicare supplemental policies from using or disclosing genetic information for underwriting purposes.²³ “Underwriting purposes” include (1) the determination of benefits, premium computations, and the application of any pre-existing condition under the plan, coverage, or policy; and (2) other activities related to the creation, renewal, or replacement of a contract of health insurance or health benefits.²⁴ Accordingly, when individuals apply for health insurance, renew, or change policies, their genetic information cannot be used for eligibility determinations, to increase premium rates, or to apply pre-existing condition exclusions.

However, although GINA protects against initial discrimination based on knowledge of genetic information, it does not prohibit a health plan from adjusting premium or contribution amounts after an individual enrolled in a plan later manifests a disease or disorder.²⁵ Additionally, once an individual is enrolled, a plan is not prohibited from obtaining genetic information incidental to the requesting, requiring, or purchasing of other information concerning any individual.²⁶

The ACA implemented protections that prohibit insurance companies in the individual and small group markets to deny or limit coverage based on pre-existing conditions or to charge higher premiums for pre-existing conditions.²⁷ Group health plans and health insurance issuer offering group or individual health insurance similarly cannot impose a pre-existing condition exclusion or use genetic information to determine eligibility.²⁸ That said, there are exceptions such as “grandfathered plans” that do not have to cover pre-existing conditions or can charge higher premiums for pre-existing conditions.²⁹

The HITECH Act enables an individual to request a covered entity to not disclose the individual’s PHI to a health plan (1) where the disclosure is for payment or health care operations purposes (and not for the purpose of treatment), and (2) the PHI pertains solely to the item or service for which the health care provider involved has been paid out of pocket in full.³⁰ A covered entity must comply with such a request if the aforementioned requirements are met unless the disclosure is “otherwise required by law.”³¹ Section 1848(g)(4) of the Social Security Act, known as the Medicare Mandatory Claims Submission Act, requires physicians, suppliers, and other persons to submit claims for covered services.³² As such, covered entities are required by law to submit claims to Medicare for covered services and they do not have to honor all Medicare patients’ requests to restrict disclosures of PHI.

Lastly, there are no federal laws explicitly protecting an individual from having to disclose genetic information or genetic testing results to insurers that are not health plans. For example, disability, life, and long-term care insurers can ask questions and request information related to genetic testing and use genetic information when making coverage determinations and setting premium rates. Due to this, although there are some legal protections for individuals to prevent disclosure or to not experience health insurance discrimination, individuals may be discouraged from performing genetic testing which otherwise may be helpful to determine an individual’s propensity for certain diseases and conditions and if there are any preventative measures to reduce the risk of such diseases and conditions manifesting.

Conclusion

Disclosure of genetic or genomic information and protecting such information are sensitive and important issues that greatly affect individuals.

It is a fundamental ethical requirement that a physician should at all times deal honestly and openly with patients. Patients have a right to know their past and present medical status and to be free of any mistaken beliefs concerning their conditions. . . . Ethical responsibility includes informing patients of changes in their diagnoses resulting from retrospective review of test results or any other information.³³

Therefore, and in line with the duties encompassed in the physician-patient relationship, and furthered by the doctrine of informed consent, physicians should strive to accurately communicate all results of genetic or genomic testing that could affect the patient’s ability to make informed decisions regarding present or future medical treatment. In order to fully meet this obligation, physicians may need to educate themselves so that they possess the level of knowledge of genetics and genomics necessary to understand and relay all test results and are encouraged to seek assistance from genetic counselors and medical geneticists in situations in which a highly-specialized explanation is necessary to facilitate full disclosure to the patient.³⁴