Who Controls Your Genetic Information? Genomics Ethics Tackled In New ACMG Report

genomics testing

Baylor College of Medicine’s Dr. Amy McGuire Contributes To New ACMG Report On Genomics Ethics.

Gene testing has powerful potential to enhance the effectiveness of health and medical care, not only in terms of diagnostics, but also predictively in terms of providing information that could lead to taking preemptive steps for early interventions to head off certain diseases that have a strong genetic predisposition factor. However it also brings with it a broad array of complex medical, ethical, legal, and social issues that require address.

Pertinent ethical questions that arise from genetic testing identified by the U.S. Human Genome Project include: “who should have access to personal genetic information, and how will it be used,” “who owns and controls genetic information,” “how does personal genetic information affect an individual and society’s perceptions of that individual,” “how does genomic information affect members of minority communities,” “do healthcare personnel properly counsel parents about the risks and limitations of genetic technology,” “how reliable and useful is fetal genetic testing,” “what are the larger societal issues raised by new reproductive technologies,” “how will genetic tests be evaluated and regulated for accuracy, reliability, and utility,” “how do we prepare the public to make informed choices,” “what is considered acceptable diversity,” “where is the line between medical treatment and enhancement,” “how do we as a society balance current scientific limitations and social risk with long-term benefits,” “who owns genes and other pieces of DNA,” and “will patenting DNA sequences limit their accessibility and development into useful products” — among others.

Some genetic tests fall short of identifying all possible gene mutations that might relate to a particular disease or condition, or that have only limited predictive value, possibly creating dilemmas for test subjects and their families in which they are unwillingly thrust into making difficult and possibly life-altering medical decisions, the consequences of which may be irreversible, based on limited or partial insight. There will be instances where some people may simply prefer not to know about statistical genetic risk factors that fall well short of being conclusive, and especially if they’re not treatable.

For example, there’s the BRCA1 and BRCA2 mutation testing spotlighted by actress Angelina Jolie’s public revelation that she has undergone a prophylactic double-mastectomy even though she has no breast cancer. These particular gene mutations carry an estimated lifetime risk for breast cancer in the range of 26% to 85%, with associated ovarian cancer risk also increased, making the decision whether to undergo preemptive breast-removal fraught with uncertainties and predicated on a genetic test that is not diagnostic.

While genetic testing can point to specific treatment or intervention steps that can be taken for some conditions, it can also reveal others for which there are no no specific prophylaxis measures or cures, and long-term prognosis is at best uncertain. Or too certain. For example, genetic testing for the progressive motor and cognitive disorder Huntington’s disease (HD), with onset in midlife, and for which individuals with an afflicted parent have long been known to carry a 50% chance of inheriting the HD gene mutation. The Huntington’s challenge for potential carriers was addressed autobiographically in popular culture 40-odd years ago by singer-songwriter Arlo Guthrie in his 1969 film Alice’s Restaurant. Guthrie’s father, folksinger Woody Guthrie, was a Huntington’s victim. Arlo, now 65, is still Huntington’s-free, and for him, genetic testing could’ve relieved him of decades of uncertainty. Genetic testing for HD is now an option, but a person who tests positive for the HD mutation has a 100% chance of developing the disease, and there are no effective HD treatments or preventive measures known, so again some individuals would no doubt prefer not to know, and taking the test is a roll of the proverbial dice. Ethicists advise that anyone considering being tested for HD first have extensive pretest counseling since while certain knowledge that one carries the HD gene mutation can be useful to some individuals in planning their life’s trajectory, others may concerned
about the psychological and potential discriminatory harms resulting from testing.

Prenatal genetic screening that is being more often employed to identify pregnancies at high risk for birth defects is another thorny patch that some prospective parents will prefer to steer well clear of to avoid being subjected to increased anxiety about statistically possible but unlikely outcomes identified. Then there is the matter of screening tests, such as multiple marker blood tests, that can be expected to generate some false-positive or false-negative results.

Another issue is potentially negative implications of genetic testing on an individual’s person’s access to insurance or employment, and fairness in the use of genetic information by courts, schools, adoption agencies, and the military, for instance. In some cases, confidentiality of individual medical information may not be adequate to eliminate risk of discrimination against persons with certain genetic characteristics identified by testing.


The American College of Medical Genetics and Genomics (ACMG) has published new guidelines defining a subset of predictive genetic alterations with well-established implications for medical care, and recommends that laboratories test for and disclose these results in all circumstances as a routine part of genomic testing — regardless of patient age or preferences. The position paper, entitled “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,” notes that In clinical exome and genome sequencing, there is potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care.One of America’s foremost nationally recognized expert in the field of medical ethics, particularly in the area of genomics, Dr. Amy McGuire JD, PhD, of Houston’s Baylor College of Medicine, was a lead contributor to the report. In August, 2012, Dr. McGuire was named director of BCM’s Center for Medical Ethics and Health Policy. Her research focuses on legal and ethical issues in genomics research involving human subjects, with a particular interest in issues of informed consent in clinical practice and confidentiality in human
genomic sequencing research studying participant attitudes toward genomic data sharing, investigators’ practices and perspectives on the return of genetic research results, ethical issues in human microbiome research, and ethical and policy issues related to the clinical
integration of genomics.

Dr. McGuire is currently studying participant attitudes toward genomic data sharing, investigators’ practices and perspectives on the return of genetic research results, ethical issues in human microbiome research, and ethical and policy issues related to the clinical integration of genomics. with her current research being funded by the NIH-NHGRI and the Cancer Prevention and Research Institute of Texas. She says she is not sure that informing people of the risk of re-identification is enough, since it may be unclear to someone signing up for a
research study as to all the ways in which their data might be used in the future, let alone to accurately weigh the risks when researchers themselves do not necessarily know them.

The report notes that exome and genome sequencing are rapidly being integrated into the practice of medicine, and that the falling price of sequencing, coupled with advanced bioinformatics capabilities, is creating opportunities to use sequencing in multiple medical situations, including the molecular characterization of rare diseases, the individualization of treatment (particularly in cancer), pharmacogenomics, preconception/prenatal screening and population screening for disease risk.

They note that in all of these applications there is potential for the recognition and reporting of incidental (or secondary) findings — results that are not related to the indication for ordering the sequencing but that may nonetheless be of medical value or utility to the ordering physician and the patient.

The ACMG’s latest policy statement on clinical sequencing emphasizes the importance of disclosing the possibility of such results in pretest patient discussions, clinical testing, and reporting of results, and the College has appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing.

In developing the guidelines, the ACMG Working Group conducted a year-long consensus process, including review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described in the document, and the ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed therein, and that this evaluation and reporting should be performed for all clinical germline (constitutional) exam and genome sequencing, including the normal of tumor-normal subtractive analyses in all subjects, irrespective of age, but excluding fetal samples.

The ACMG Working Group affirms that they recognize that there are insufficient data on clinical utility to fully support their recommendations and they encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.

In responding to the ACMG report, the National Society of Genetic Counselors (NSGC), an authority and advocate agency for the genetic counseling profession representing more than 2,700 health professionals. says it applauds the efforts of ACMG to provide guidance to laboratories and clinicians as our society begins to integrate new genome sequencing technologies into clinical practice, affirming that the recently published ACMG recommendations represent a break from past practices, which prioritized a patient’s right not to know genetic information that was predictive rather than diagnostic in nature.

In a statement, the NSGC says it understands the unique potential of genomic information to improve health outcomes and believes that empowering patients does not mean restricting their ability to make choices for themselves, provided that adequate expertise remains available throughout the process to patients and physicians. They recommend that pre-test counseling be structured to provide patients with clear expectations about what the testing can and cannot provide, and that patients and families should understand that they may receive information about their risk for unsuspected disorders, including but not limited to conditions such as cancer, heart disease and neurologic disease, even if they are not seeking this information.

“Individuals who are considering the option of clinical genomic sequencing for themselves or on behalf of their children should meet with a genetic counselor or other qualified genetics healthcare provider before genomic testing is performed, so that they are aware of the type of information they may or may not learn,” says Rebecca Nagy, MS CGC certified genetic counselor and president of the National Society of Genetic Counselors, in the statement. “Through a discussion of family history and other factors, we can provide patients with information to choose the best genetic test for themselves and their families.”

The NSGC recommends that physicians using genomic testing should be prepared to help patients access a professional with specific genetics training, such as a genetic counselor, who can help them put the results into context and develop a plan for follow-up. More information on how to find a genetic counselor in your area, can be found at http://www.nsgc.org,

Read additional news about Dr. Amy McGuire‘s work at BioNews Texas.

About Charles Moore

Charles Moore
Charles Moore is a syndicated columnist for several major Canadian print newspapers and has an extensive background in covering technology. He serves as a Contributing Science and Technology Editor for BioNews Texas.
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