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Patients should get health risk gene information whether they want it or not, says report

25 March 2013
Appeared in BioNews 698

The American College of Medical Genetics and Genomics (ACMG) has published a report recommending that patients who have their genomes sequenced should automatically be told of incidental genetic findings.

The report recommends that when a patient's full set of genes is sequenced for any medical reason, laboratories should also screen for additional genetic problems, even those that are unrelated to the risk justifying genome sequencing in the first place. Patients would then be notified of any additional genetic conditions found.

'I'm pretty proud of this, as the first response by an organised medical body to the completely revolutionary aspects of using whole genome sequencing in the practice of medicine', said Dr Robert Green, a medical geneticist at Brigham and Women's Hospital and Harvard Medical School, who co-led the working group.

Technological advancements have made whole genome sequencing much cheaper, with genetic specialists predicting that it will become a routine part of patient care within a few years. 'You simply can't do business as usual, once this [technology] is scaled up and is affordable, and is part of everyone's medical care', said Dr Green.

A list of genetic conditions ranging from heart conditions to cancer, was approved for inclusion in a list of conditions recommended for routine testing. It also includes testing for BRCA1 and 2 mutations which carry an increased risk of breast cancer, even though for some people with the mutations the condition may not materialise.

There is also the possibility that such genetic risks may map out differently in the general population, said Dr Isaac Kohane, chair of the informatics program at Boston Children's Hospital. If genome testing becomes more widespread and an increasing number of people present genetic risks, then if such risks are not fully understood by the medical practitioners it could lead to unnecessary medical interventions, explained Dr Kohane.

The working group prioritised disorders where knowledge of the gene can be used to prevent or treat the condition and it estimates that approximately only one percent of sequencing reports will include an incidental variant from the list approved. The working group also mentioned that a volunteer registry could be made to follow those that were given incidental genetic findings and to document the actual penetrance of these variants, health benefits, and the possible costs that may flow from the disclosure.

The recommendations represent a departure from traditional medical practices where patients are allowed to opt out by telling physicians they do not want to be told about certain conditions. The report says that doctors should disclose any mutation detected to the patient, whatever their age, as well as arranging counselling and medical follow-ups.

It explains that recording and respecting patients' preferences about what information to receive will become increasingly difficult as genome testing becomes more common place. Ensuring patients are adequately informed and receive counselling would be impractical, it says, adding that informed consent procedures for genome sequencing should be amended to incorporate its recommendations.

Some commentators have expressed concern over the report, however. '[The guidelines] go very far in privileging the concerns of the lab and the concerns of the clinician over the rights of the individual patients, and the rights of kids to be protected from certain information', said Susan Wolf, a professor of law and medicine at the University of Minnesota . 'I am troubled by them going that far in demonstrating these core concerns of [patient] autonomy, which in the clinical sphere have been such bedrocks'.

The report acknowledges ethical issues may arise around patient autonomy and the 'right not to know' but concludes that the doctor's 'duty to prevent harm by warning patients and their families about certain incidental findings' justifies the recommendation.

ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing (pdf)
American College of Medical Genetics and Genomics |  21 March 2013
ACMG Releases Highly-Anticipated Recommendations on Incidental Findings in Clinical Exome and Genome Sequencing
American College of Medical Genetics and Genomics (press release) |  21 March 2013
Controversial guidelines suggest patients should be informed what risks lurk in their DNA
Science In Mind (Boston Globe blog) |  21 March 2013
Patients Should Get DNA Information, Report Recommends
ScienceInsider |  21 March 2013
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