Returning genetic incidental findings without patient consent violates basic rights, experts say

May 16, 2013, University of Minnesota

Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients' rights will continue in an era of medical genomics.

Recent recommendations from the American College of and Genomics (ACMG) suggest no. On March 22, the ACMG released recommendations stating that when clinical sequencing is undertaken for any medical reason, laboratories must examine 57 other specific genes to look for incidental findings. These findings must then be reported to the clinician and the patient. In an April 25 "clarification," ACMG said that failure to report these findings would be considered "unethical." The patient has no opportunity to opt-out of the testing of the 57 genes, except to decline all sequencing. The recommendations also apply to children.

In a paper to be published in Science May 16 online ahead of print, authors Susan M. Wolf, J.D. (University of Minnesota), George J. Annas, J.D., M.P.H. (Boston University), and Sherman Elias, M.D. (Northwestern University) push back against these recommendations, and offer compelling reasons why patient autonomy must remain firmly in place as science advances. Their article on and Incidental Findings in Clinical Genomics urges ACMG to reconsider their recommendations. This article is published with a reply by Amy McGuire, J.D., Ph.D. (Baylor College of Medicine) and colleagues.

Wolf, Annas, and Elias argue that, "The ACMG's 'minimum list [of 57 genes]' includes mutations in genes that have long been able to refuse testing for, including mutations (such as BRCA1) and cardiovascular risk mutations." They point out that "There are many circumstances in which a patient may decline such testing and information, even if the results could open avenues for intervention. The patient may already be battling another disease, such as advanced cancer, or be late in life and see more burden than benefit in added genetic information. The patient may also fear that 'extra' results in their medical record will invite risk of discrimination."

ACMG says that applying these recommendations to children may help adult family members understand their own health risks. However, Wolf et al. point out that "this is exactly what past recommendations have rightly rejected, in limiting and disclosure of genetic information to what is medically necessary during childhood." The authors cite long-standing policy discouraging childhood testing for adult-onset conditions. "Delaying testing and return of genetic information not medically useful in childhood allows the child to reach adulthood and then make a choice based on his or her own values."

The ACMG indicates that their list of genes to test without consent will grow. Their report says that laboratories may look for variants in other genes, "as deemed appropriate," and that ACMG will review the roster of 57 annually. Wolf et al. voice concern that "As the list expands, so will the scope of testing without consent…." The authors urge the importance of patients' rights, especially in an era of when extensive can be generated on any patient.

Explore further: Patients should have right to control genomic health information

More information: "Patient Autonomy and Incidental Findings in Clinical Genomics," by S.M. Wolf, Science, 2013.

Related Stories

Patients should have right to control genomic health information

May 9, 2013
Doctors should not have the right or responsibility to force-feed their patients with genomic information about their future health risks, according to bioethicists writing on May 9 in Trends in Biotechnology, a Cell Press ...

ACMG releases report on incidental findings in clinical exome and genome sequencing

March 21, 2013
The American College of Medical Genetics and Genomics (ACMG) released the widely-anticipated "ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing" report at its 2013 Annual Clinical ...

ACMG releases statement on noninvasive prenatal screening

April 8, 2013
The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section ...

Experts urge caution over use of new genetic sequencing techniques

May 16, 2013
The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. ...

Genomic screening for improved public health

March 7, 2013
In ten years time, routine preventive health care for adults may include genetic testing alongside the now familiar tests for cholesterol levels, mammography and colonoscopy. As genomic testing prepares to enter the realm ...

Nearly half of breast cancer patients at risk of having BRCA mutations not sent for genetic testing

April 8, 2013
Only 53 percent of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA 1 or BRCA 2 mutation – based on age, diagnosis, and family history of breast or ovarian cancer – reported that their doctors ...

Recommended for you

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

Study advances gene therapy for glaucoma

January 16, 2018
While testing genes to treat glaucoma by reducing pressure inside the eye, University of Wisconsin-Madison scientists stumbled onto a problem: They had trouble getting efficient gene delivery to the cells that act like drains ...

3 comments

Adjust slider to filter visible comments by rank

Display comments: newest first

GDM
not rated yet May 16, 2013
New Miranda warning: "...you have the right to remain ignorant..."

Simply amazing someone would want to remain in the dark about their own body.
artemarva
not rated yet May 16, 2013
The problem is that these findings can be turned against the patient and used to limit their involvement in various jobs and missions.

Also, there is the fact of self-fulfilling prophecy, people who receive this informations can think this stuff into existence, if there is reason to mull over it. However, with knowledge comes change. So if I can limit a certain behavior or a certain food to avoid to limit my health risks then I see it as a blessing.

Clients should be asked if they want the extra service. However, if a medical condition is able to be diagnosed and prevented from emerging would benefit the client more than discovering its manifestation later, when it's worse.
DonaldJLucas
not rated yet May 17, 2013
Is this really any different than the forced testing for tuberculosis that all 10th grade students go through? This has been going on since the 60's or longer.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.