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ACMG Issues Guidelines on Safeguarding Patient Genomic Data, Avoiding Genetic Discrimination

NEW YORK – The American College of Medical Genetics and Genomics has released two sets of complementary guidelines for medical geneticists and other clinicians on safeguarding the genomic data of their patients, and avoiding unfair discrimination and the misuse of genetic information.

The papers, which were published on Thursday in Genetics in Medicine, are meant to acknowledge that while genomic information is essential to improving the quality of care for patients, the misuse of that information can lead to harm.

"These two documents address the balance of benefits and harms and provide guidance to inform solutions that can enhance the benefits of sharing genetic information while minimizing risk to our patients," ACMG President Marc Williams said in a statement.

In "Stewardship of Patient Genomic Data: A Policy Statement of the ACMG," the organization said that the exchange of de-identified genomic data is a potential avenue for breach of privacy, and that it's inadequately protected by current regulations and practices. The ACMG determined that there is a compelling need to establish standards of practice around the sale, transfer, or exchange of human clinical and genetic information to ensure the privacy of patients and community members, and retain the public's trust.

The policy statement laid out eight key elements related to the use, transfer, and sale of de-identified patient or consumer data obtained through screening or diagnostic testing, such as patient notification and consent, the responsibilities of testing laboratories, data use agreements, and the resale or transfer of genomic data.

For example, when ordering genetic tests, clinicians should alert patients of any lab policies about how patient results and data may be shared in de-identified form for research, giving patients the choice to participate or not, the ACMG recommended. The organization also said that labs should consider whether particularly sensitive uses for data, such as to study genetic contributions to psychosocial traits, merit additional protections.

Importantly, the ACMG noted that resale or other secondary transfers of human genomic data shouldn't be allowed without appropriate authorization and an agreement between the parties that the data will not be re-identified, and that re-identification of individuals without their express permission is not permissible.

"In light of remarkable advances in genomic technologies and bioinformatics that brings medical genetics ever closer to the center of medicine, we recognized a growing need to make explicit the ethical obligations that geneticists and care providers have to act as stewards over the samples and information entrusted to us by patients and members of the general public," policy statement lead author Robert Best said in the statement. "Protecting the welfare, autonomy and privacy of those who depend upon us for their care is essential to the vision of ACMG as we empower our members to be leaders in the integration of genetics and genomics into all of medicine and healthcare for the advancement of personal and public health."

The second document, "Points to Consider to Avoid Unfair Discrimination and the Misuse of Genetic Information: A Statement of the American College of Medical Genetics and Genomics," said that advances in science's understanding of human health and disease are often based on shared genomic data, and that proper attention must be paid to the correct use of this data for both the individual and society.

Researchers and clinicians must recognize that genomic data might be used to unfairly discriminate now or in the future, and strategies must be developed to prevent or mitigate such misuse, the organization said, adding that there's a need to be sensitive to both real and perceived concerns about genetic discrimination, and to have detailed informed consent conversations with patients that address the use of genetic data and any privacy concerns.

Among the points the ACMG determined were important in this discussion were issues related to legislation and legal protections against discrimination, social justice and equity, life and disability insurance, and data privacy and protection.

For example, the organization said, updated and future legislation related to genetic discrimination must consider the various domains in which genetic and genomic information are generated and shared. Further, individuals with a genetic diagnosis or who are at higher risk for a genetic condition must continue to be protected against health insurance discrimination related to eligibility and cost.

The ACMG also noted that a concerted effort must be made to increase the diversity of genetic databases, to improve variant interpretation in diverse populations, and to facilitate the study of genetic, environmental, social, and structural determinants of health.

Importantly, the guidelines added, "Every human life has equal value and rights; therefore, genetic information should not be used to perpetuate racism, superiority, or discrimination."

Lead author of the points to consider document Laurie Seaver noted in the statement that the ACMG's original document relating to unfair discrimination based on genetics was published 20 years ago, and that the ACMG Social, Ethical, and Legal Issues committee thought it was time for an update, given the widespread use of genetic testing for medical and nonmedical uses.

"Advances in our understanding of human health and disease are based on shared genomic data," Seaver added. "We must focus on proper and just use of this data for both the individual and society, recognizing how the data might be used to unfairly discriminate now and in the future, and develop strategies to prevent or mitigate such misuse. These ACMG documents will provide a framework for further policy, practice, and legislation related to genetic information."