Patients with advanced cancer want to know their genomics test results

An overwhelming majority of people with incurable cancer want to hear findings from DNA sequencing of their own tumors and normal cells, and to learn how those results may affect their health and treatment options, Dana-Farber Cancer Institute scientists report.

The discovery highlights the need to improve patient education about genomics and to boost the resources available for the oncologists who interpret and present these findings to the patients.

Given the high stresses on patients with advanced disease, health care providers may worry about placing the burden of additional information on them, noted Stacy Gray, MD, AM, a Dana-Farber oncologist and lead author on a paper about the research in Genetics in Medicine.

But in general, Gray said, “people just want to know.”

In the study, 167 patients with Stage 4 lung or colorectal cancer described their preferences about learning data from whole-exome sequencing of both their tumors and their normal cells. (Whole-exome sequencing gathers data on DNA that is expressed into proteins.) The study is one of the first to survey advanced cancer patients in detail about their preferences in hearing results from such tests.

At least 95 percent of the patients asked to learn about results that could help to select a clinical trial for them, to understand how their genes could affect their response to drugs, to suggest their inherited predispositions to cancer and treatable non-cancer conditions, and that indicated positive prognostic results (giving them a more favorable outlook than the average in this type of cancer).

A slightly smaller set of patients, around 84 percent, wanted to hear about negative prognostic results, and 86 percent wanted to learn about results suggesting that they had inherent predispositions to untreatable non-cancer conditions.

Although the patients were a relatively well-educated group, they demonstrated moderately low knowledge of genomics, Gray said. For instance, a sizeable minority did not know that genetic testing can aid in evaluating cancer risk.

Better understanding of genomic test results can empower cancer patients to participate more actively in their own care, emphasized Gray, who called for “a patient-centered perspective of what the information means.”

The study conducted separate interviews of 27 Dana-Farber oncologists who treated these patients and found quite varied opinions about disclosing genomic test results to patients. Among these physicians, 78 percent were in favor of disclosing clinically valid genomics results, and 67 percent supported disclosing these results even if they lacked clinical utility but were cases where a relationship between genotype and phenotype had been established. Additionally, 52 percent said that patients should be given full access to any results they requested. (Actual disclosures to the patients in the study followed the patients’ declared preferences.)

Providers showed more hesitation when they anticipated disclosing genomic results that would not affect treatments and could raise psychological or psychosocial issues that might call for counseling support. Finding the right match of information to provide is a familiar challenge for oncologists, Gray noted.

Many of the surveyed oncologists worried about their difficulty in keeping up with complex and ever-changing genomic information and being able to act on it quickly and translate it for patients, families, and friends. These concerns were particularly strong among physicians with limited experience in interpreting sequenced DNA data for normal cells.

Scientific advances in genomics underlie the enormous promise of “precision medicine” programs such as Dana-Farber’s Profile clinical research program, which has performed DNA sequencing for thousands of cancer patients. “With precision medicine, for example, our treatments for lung cancers have dramatically improved for a subset of cancer patients where we can identify a set of genomic alterations and treat them with targeted therapies,” Gray said.

Additionally, sequencing DNA in a patient’s normal cells, as was done in this study and will be done at some point in the future for participants in the Profile program, will aid in preventing certain cancers by identifying people at high risk of developing them. “The potential of this sequencing to help prevent cancer in patients and their families is potentially very high,” she said.

Steven Joffe, MD, MPH, of the University of Pennsylvania is senior author on the paper. Dana-Farber’s Levi Garraway, MD, PhD, is principal investigator for the study, which was supported by the National Human Genome Research Institute (U01HG006492 and U01 HG007303).