PERSPECTIVE: ENHANCING THE QUALITY OF CARE WITH THE PRACTICE OF GENOMIC MEDICINE

The mapping of the human genome was an epic accomplishment symbolizing progressive development in the field of medicine. Prominent scientific journals Nature and Science each have featured articles highlighting the significance of this event. The intended goal of this project was “to compile a complete list of all human genes and their encoded proteins to serve as a ‘periodic table’ for biomedical research [1].” A sequence of the human genome was compiled through a joint effort by numerous scientists from various countries. As a result of this consorted effort, several gene mutations have been identified and utilized as a marker for genetic disease [2]. BCRA-1 and BCRA-2 are genetic markers for breast cancer and are used to determine one’s risk of developing breast cancer. The genetic marker for nonpolyposis colorectal cancer, known as HNPCC, has also been identified. With the inception of the mapping of the human genome came the advent of genomic medicine. Genomic medicine is the practice of medicine by analyzing an individual’s genome to tailor one’s health care. Genetic screening is a public health practice composed of test methods used to make a risk estimate about a specific genetic disease [3]. The National Advisory Council for Human Genome Research (NACHGR) endorses the use of genetic information for improving medical care [4]. Genetic information derived from an individual’s genetic screening test reveals genetic markers that prompt a physician to utilize targeted preventative, diagnostic, and or therapeutic health services-enhancing one’s quality of care.

With the advancement of genomic medicine, new public policy should be considered. One such issue deals with the consequence of having your health insurance coverage influenced by the genetic information gathered from your genetic screening test. The Health Insurance Portability and Accountability Act (HIPPA) of 1996 contains a provision that prohibits health insurance providers from making eligibility determinations based upon one’s genetic information. There is a concern that private insurance companies could discriminate against those with predispositions to certain genetic diseases by charging a higher insurance premium than those who do not have a predisposition to a specific disease and or denying or limiting coverage. State policy development that emphasizes confidentiality in genetic testing would reinforce federal initiatives taken to curtail this issue. The Genetic Information Nondiscrimination Act (GINA) of 2008 also addresses the issue of genetic discrimination under HIPAA. More specifically the legislation places limitations on genetic testing by stating: “A group health plan, and a health insurance issuer offering health insurance coverage in connection with a group health plan, shall not request or require an individual or a family member of such individual to undergo a genetic test [5].”  

Expectations of provider care have increased with the application of genomic medicine. The American Medical Association’s Institute for Ethics has suggested recommending genetic testing only when the test results will alter the patient’s actions to treatment, prevention, or management of the disease.  [6]. To what extent should a physician inform a patient’s child about their susceptibility to genetic disease? The issue of extending this duty of care to a third party was addressed by the Florida Supreme Court. The court analyzed the issue of whether the duty of care owed by a physician in warning the patient about the transferability nature of their genetic predispositions extends to the patient’s child. The plaintiff sued on a theory of negligence, claiming the physician who treated her mother for a genetic disease should have warned her mother about the likelihood of passing the disease to her children. She also argued the duty to warn extends not only to her mother but to herself. The court agreed by stating:

“When the prevailing standard of care creates a duty that is obviously for the benefit of certain identified third parties, and the physician knows of the existence of those third parties, then the physician’s duty runs to those third parties. Therefore, we hold that privity does not bar [plaintiff’s] pursuit of a medical malpractice action. [Because] under the duty alleged in this case, a patient’s children fall within the zone of foreseeable risk [7].” However, the duty is satisfied when just the patient is informed.

The outcome of this case addresses a very narrow issue related to the duty of care formulated through case law that only slightly touches upon disclosure issues about the use of genetic screening services. This case may establish a precedent for liability with this particular public health practice. Policy initiates encouraging the advancement of genomic medicine would be instrumental in improving one’s quality of care. Moreover, the inclusion of genetic counselors is an essential aspect of meeting a patient’s needs in their delivery of care by interpreting their risk for genetic diseases and counseling them on preventative action and or treatment.

[1] Lander, ES, et. al. (2001).  Initial Sequencing and Analysis of the Human Genome.  Nature, 409.

[2] Guttmacher, AE. & Collins, F. (2002).  Genomic Medicine-A Primer.  N Eng J Med., 347 (19).

[3] Andermann, A. & Blancquaert, I. (2010).  Genetic Screening:  A primer for primary care.  Can Fam Physician, 56.

[4] Hudson, . (1995).  Genetic Discrimination and Health Insurance:  An Urgent Need for Reform.  Science, 270.

[5] Pub. L. 110-233.

[6] Weisfeld, NE (2002). Mapping public policy on genetics.  Gene Therapy, 9.

[7] Pate v. Threlkel, 661 So2d 278 (Fla 1995).