Genetic testing: What patients and caregivers understand and value

By Richard Tsai

There’s been an explosion of information about genes, genetics and genomics since completion of the Human Genome Project in April 2003. Stories about remissions achieved through pharmacogenomics and immunotherapy and disease risk factors identified through genetic testing fill both online and offline media. Today, direct-to-consumer (DTC) genetic testing companies–which make kits available at between $100 and $200– have huge databases of genetic information. In fact, even if you have never used a kit, you may be able to be identified through these databases if distant family members have shared their genetic information. According to an article in Science, 60 percent of Americans of northern European heritage can be identified through these databases.1

Yet, recent research indicates that as genetic testing becomes integrated in the clinic, patients and caregivers may be left behind. Last year, Inspire conducted a study targeting Inspire patient and caregiver members from 15 Inspire communities in the areas of oncology, rare disease, autoimmune and chronic conditions. The fielded survey–asking members their insights, knowledge and experiences with genetic testing–returned 2,568 completed surveys.

Overall Findings

Across the conditions, 36 percent of respondents had already received genetic testing and 88 percent wanted to get tested or obtain more genetic testing. Of those who had been tested, half had the testing based on their doctor’s recommendation.

On the whole, a high level of interest in genetic testing exists, including nearly 70 percent who indicated interest in gut biome testing and another 59 percent who wanted genetic counseling. Their reasons for the testing included “to learn more about myself” (79 percent), to accelerate medical progress (76 percent), to increase eligibility for genetically based clinical trials (58 percent), to learn about my ancestry (48 percent), and to connect with others with similar traits (32 percent).

Over 80 percent were willing to share genetic information with a doctor or researcher and 75 percent believed that their information could help them find better treatments for themselves or will lead to the discovery or development of new treatments in the future. However, only 30 percent indicated a willingness to share their information with insurance or with the pharmaceutical industry.

Perceived value of genetic information

Respondents most valued the discovery or development of treatment options for themselves or the disease overall. Those with rare diseases placed more emphasis in using their genetic information to help them find the right doctors. Generally, least important was using genetic information to find others like themselves.

Sentiment trends

The most passionate positive and negative feelings were expressed in open ended responses around how their genetic information would be used. Respondents communicated feelings ranging from open hostility, fear and anxiety and misunderstanding to sophisticated understanding and enormous hope.

Knowledge Gaps

Eighty-two percent of the respondents agreed with the statement “I understand the relationship between genes and health and 71% agreed with the statement “I am confident in my ability to understand information about genetic results.”

Yet, when asked about specific genetics related terms, participants had limited knowledge. Respondents had the most familiarity with the terms “whole genome sequencing” and “precision medicine” while 60 percent had never heard of “SNPs,” “Exomes,” and “Companion Diagnostics.” Patients diagnosed with cancer were the most knowledgeable, 48 percent indicating the most familiarity with these terms.


The pace of change in our knowledge of genes and their influence on health has been exponential. Since the Human Genome Project completion, a conjunction of government funding and new companies (created by researchers associated with the project and established pharmaceutical companies) has pushed the field of pharmacogenomics forward.

However, as industry has pressed on, public education in the sciences and specifically in genetics has not kept up. A review of the state standards on education about genetics and genomics calls 85% inadequate. Concepts like inherited genetic diseases and somatic genetic diseases are not covered, neither do curriculums cover how the environment impacts expression of genetic traits.2

Our research confirms a lack of knowledge but also intense interest in genetics and genetic testing. Based on the present findings we offer five recommendations to those interested in using genetic testing in their research.

First, when creating outreach materials to patients and caregivers the focus should be on education and transparency.

Second, foster trust and alleviate fear, specifically being clear and transparent as to how personal genetic data will be gathered and used.

Third, provide detailed explanations in plain language of clinical terms in informational materials and messages.

Fourth, the strong interest our respondents had in genetic counseling suggests that as part of testing, researchers should provide resources to help counsel patients to better understand their options and their results.

Fifth, in outreach materials include information about how testing can lead to targeted treatment and the development of new medications.

Download the case study, “What Sponsors Need to Know: Patient Insights on Protocol Design.”

protocol design
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