President's Cancer Panel Reviews Human Genome Project

May 1, 1995

BETHESDA, Md--Scientific prog-ress in mapping the human genome has been rapid and remarkable, but development of social and public policy in response to the scientific discoveries has lagged behind and is woefully inadequate, members of the President's Cancer Panel decided after an all-day meeting.

BETHESDA, Md--Scientific prog-ress in mapping the human genomehas been rapid and remarkable, but development of social and publicpolicy in response to the scientific discoveries has lagged behindand is woefully inadequate, members of the President's CancerPanel decided after an all-day meeting.

The Human Genome Project, directed by the National Center forHuman Genome Research, the National Institutes of Health, andthe Department of Energy, is aimed at increasing our understandingof genetic diseases by mapping and sequencing the human genome,as well as that of selected other organisms.

Nonscientific Issues to Be Studied

The cancer panel, chaired by Harold P. Freeman, MD, Harlem HospitalCenter, heard from Elke Jordan, MD, deputy director of the NationalCenter for Human Genome Research, that the mapping process iscomplete and sequencing is progressing well. She said that scientistshave now isolated single genes that cause disease, and discoveryof polygenic causes of human disease are expected to occur inthe near future.

Dr. Jordan said that funds have been set aside to explore nonscientificissues arising from knowledge gained from the Human Genome Project.These include responsible clinical use of genetic information;whether to divulge results of genetic testing to health insurancecompanies, employers, and other third parties; privacy and medicalconfidentiality; and education of health professionals and thepublic about genetics, genetic testing, and gene therapy.

Who Owns the Sample?

Patricia A. Barr, an attorney and member of the National BreastCancer Coalition, talked about genetic privacy and medical confidentiality.She used the term "linkable data" to refer to the abilityto link a stored sample of tissue that has or will be subjectedto genetic testing with an identifiable person.

As long as such linkages can be made, Ms. Barr said, all rightsto genetic information, including having the sample destroyedat any time, belong to the person giving the tissue sample (thesource). She maintains that the sample should belong to that personas long as an identification link can be made.

Ms. Barr expressed particular concern over the issue of providinggenetic information to third parties, such as insurance companies,as well as members of the source's own family. The potential forusing such information to discriminate is considerable, she said.

Genetic counseling has never been more important than it is now,said Mary Daly, MD, a medical oncologist and director of the FamilyRisk Assessment Program, Fox Chase Cancer Center. She noted thatof the 1,500 genetic counselors in the United States, fewer than100 have had experience dealing with cancer. Even worse, manynurses and other health professionals who engage in genetic counselinghave had no formal training at all.

Dr. Daly told the panel that the public needs to be educated aboutfamily cancer risk. This should be done only by professional geneticcounselors trained to perform genetic cancer risk assessment.Such assessments identify people who are appropriate candidatesfor genetic testing (based on a full family and individual medicalhistory). Counselors should also be able to make recommendationsfor a variety of options for risk reduction.

Patricia T. Kelly, MD, director of medical genetics and cancerrisk screening, Salick Health Care, Inc., Alta Bates ComprehensiveCancer Center, talked about the needs of people who seek cancerrisk screening. She said that counselors are obligated to providethem with, not just specific data about their own risk of cancer,but information about cancer screening and treatment in general.People also need to understand the risk of cancer in any givenyear as opposed to that risk over one's lifetime, she said.

Dr. Kelly made several recommendations to the panel on how thegovernment could help improve genetic testing and counseling (seetable below).

John L. Cova, PhD, a private health insurance consultant in Clifton,VA, told the panel that 70% of Americans who have health insuranceobtain it through employers. Of those people, 50% are coveredby self-insured companies. This means that all medical claimsare paid by a company itself, not an outside insurer, and allmedical information is then held by an individual's employer.

Self-insured companies do not come under the aegis of state insurancecommissions, which may have serious implications for genetic testing,Dr. Cova said. For example, self-insured employers are not requiredto submit to state health insurance laws, including state-mandatedbenefits, nor would they be required to reimburse the cost ofgenetic testing.

Dr. Cova asked the panel to consider the question of how we, asa nation, will structure a health insurance policy that permitspeople to be genetically tested without allowing insurance companiesand/or employers to demand the results of those tests.

David Tennenbaum, of the Blue Cross Blue Shield Association, notedthat widespread use of a variety of managed care strategies hasled to a blurring of the distinction between providers of andpayers for health care.

He emphasized that genetic information should not be used forhealth insurance underwriting purposes. "Health plans shouldbe in the business of managing risk, not avoiding risk,"he said. "If genetic information is used to segregate peopleinto high- and low-risk pools, adverse selection will become thenorm, and discrimination will be established."

Recommendations for Improving Genetic Testing

Develop guidelines for genetic testing that must include counselingso that people can understand and interpret test

results.

Establish a hotline for health professionals that provides informationabout cancer risk research.

Provide funds for the education of health professionals who willengage in genetic testing and counseling.

Institute a public information campaign.

Ensure that adequate public funds and/or reimbursement throughprivate health insurance are available to pay for genetic testing.

As presented by Patricia T. Kelly, PhD, Salick Health Care, Inc.,to the President's Cancer Panel.