Regional Adoption of Commercial Gene Expression Testing for Prostate Cancer.

IMPORTANCE: Although tissue-based genomic tests can aid in treatment decision-making for patients with prostate cancer, little is known about their clinical adoption. OBJECTIVE: To evaluate regional adoption of genomic testing for prostate cancer and understand common trajectories of uptake shared by regions. DESIGN, SETTING, AND PARTICIPANTS: This dynamic cohort study of patients diagnosed with prostate cancer used administrative claims from Blue Cross Blue Shield Axis, the largest source of commercial health insurance in the US, to characterize temporal trends in the use of commercial, tissue-based genomic testing and calculate the proportion of tested patients at the hospital referral region (HRR) level. Eligible patients from July 1, 2012, through June 30, 2018, were those aged 40 to 89 years with prostate cancer diagnosed from July 1, 2012, through June 30, 2018. MAIN OUTCOMES AND MEASURES: Group-based trajectory modeling was used to classify regions according to discrete trajectories of adoption of commercial, tissue-based genomic testing for prostate cancer. Across regions with distinct trajectories, HRR-level sociodemographic and health care contextual characteristics were compared, using data previously calculated among Medicare beneficiaries. RESULTS: A total of 92 418 men with prostate cancer who met inclusion criteria were identified; the median (interquartile range) age at diagnosis was 60 (56-63) years. Overall, the proportion of patients who received genomic testing increased from 0.8% in July 2012 to June 2013 to 11.3% in July 2017 to June 2018. Trajectory modeling identified 5 distinct regional trajectories of genomic testing adoption. Although less than 1% of patients in each group were tested at baseline, group 1 (lowest adoption) increased to 4.0%. Groups 2 (7.8%), 3 (14.6%), and 4 (17.3%) experienced more modest growth, while in group 5 (highest adoption), use increased to 33.8% of patients tested from June 2017 to July 2018. Compared with regions that more slowly adopted testing, HRRs with the highest rate of adoption (group 5) had higher HRR-level education measures (percentage [SD] with college education: group 1, 25.6% [4.8%]; vs group 2, 27.5% [7.3%]; vs group 3, 30.3% [9.1%]; vs group 4, 29.8% [8.2%]; vs group 5, 30.4% [11.4%]; P for trend = .03), median (SD) household income (group 1, $50 412.8 [$6907.4]; vs group 2, $54 419.6 [$11 324.5]; vs group 3, $61 424.0 [$17 723.8]; vs group 4, $58 508.3 [$15 174.6]; vs group 5, $58 367.0 [$13 180.5]; P for trend = .005), and prostate cancer resources, including clinician density (No. [SD] of clinicians per 100 000: group 1, 2.5 [0.3]; vs group 2, 2.5 [0.5]; vs group 3, 2.6 [0.5]; vs group 4, 2.7 [0.7]; vs group 5, 2.6 [0.5]; P for trend = .04) and prostate cancer screening (percentage [SD] of prostate-specific antigen testing among patients aged 68-74 y: group 1, 29.4% [11.8%]; vs group 2, 32.4% [11.2%]; vs group 3, 33.1% [12.7%]; vs group 4, 36.1% [9.7%]; vs group 5, 28.8% [11.8%]; P for trend = .05). CONCLUSIONS AND RELEVANCE: In this cohort study of patients with prostate cancer, the adoption of commercial tissue-based genomic testing for prostate cancer was highly variable in the US at the regional level and may be associated with contextual measures related to socioeconomic status and patterns of prostate cancer care. These findings highlight factors underlying differential adoption of prognostic technologies for patients with cancer.

Health orientation and individual tendencies of a sample of Italian genetic testing consumers.

BACKGROUND: Over the last decade, genetic testing (GT) had markedly spread in European countries and struggled the debate concerning the psychological effects on the population. The aim of this study was to investigate the individual tendencies of GT consumers in a sample of Italian citizens. METHODS: A total of 152 Italian clients from GenomaLab, a private genetic company, were enrolled from February 2016 to September 2018 and completed an ad hoc survey. RESULTS: Results showed that GT consumers were motivated to preserve their well-being, they felt responsible for their health, they were neither pessimistic nor optimistic toward negative occurrences, and poorly inclined to take high risks in their lives. Participants who had suffered from a disease in the past appear to be less tolerant to the uncertainty for future negative events. CONCLUSION: Our results depict Italian GT consumers as health-oriented, focused on prevention, who do not have a pessimistic perception of their condition but do not like to "bet" on their health, and probably their intention (and belief) is to acquire genetic information in order to reduce uncertainty and increase their decision-making "power" related to their health. Taken together, all these results contribute to describe the population of GT users in European countries, to regulate the provision of GT results and to entail the communication of genetic risk information based on a consumers' personal profile.

Direct-to-Consumer Nutrigenetics Testing: An Overview.

At present, specialized companies offering genetic testing services without the involvement of clinicians are growing; this development is a direct consequence of the significant decrease in genotyping and sequencing costs. Online companies offer predictions about the risk of developing complex diseases during one's life course, and they offer suggestions for personal lifestyle. Several companies have been created that provide nutrigenetics services; these companies suggest dietary indications-a central issue in the prevention and etiopathogenesis of specific diseases-based on one's personal genetic background. Dietary patterns are defined on the basis of a limited set of genetic markers. In this article, we analyze the online nutrigenetics services offered by 45 companies worldwide, to obtain an overall picture of the costs, the types of nutritional traits considered and the level of scientific precision of the services proposed. Our analysis clearly highlights the need for specific guidelines, in order to ensure a set of minimum quality standards for the nutrigenetics services offered to the customer.

Trends and Gaps in Awareness of Direct-to-Consumer Genetic Tests From 2007 to 2014.

INTRODUCTION: Direct-to-consumer genetic tests for inherited disease risks have gained recent approvals from the Food and Drug Administration, and interest in these tests has continued to grow. Broad use of these tests coupled with planning and discussion with health providers regarding genetic risks and potential protective behavior changes have been proposed as preventive tools to reduce health disparities and improve equity in health outcomes. However, awareness of direct-to-consumer genetic testing has historically demonstrated differences by education, income, and race; these disparities could jeopardize potential benefits by limiting access and use. METHODS: The national survey data from the Health Information National Trends Survey was analyzed to understand how overall awareness of direct-to-consumer genetic testing and disparities in awareness across sociodemographic groups have changed since 2007. RESULTS: The findings showed persistent disparities, as well as a widening gap in awareness between Hispanics and non-Hispanic whites (OR2007 =1.52, OR2014 =0.58, pchange =0.0056), despite overall increases in awareness over time. CONCLUSIONS: Given these findings, policies regulating direct-to-consumer genetic tests should prioritize equitable distribution of benefits by including provisions that counteract prevailing disparities in awareness.

Consumer use and response to online third-party raw DNA interpretation services.

BACKGROUND: With the availability of raw DNA generated from direct-to-consumer (DTC) testing companies, there has been a proliferation of third-party online services that are available to interpret the raw data for both genealogy and/or health purposes. This study examines the current landscape and downstream clinical implications of consumer use of third-party services. METHODS: Study participants were recruited online from social media platforms. A total of 321 survey respondents reported using third-party services for raw DNA interpretation. RESULTS: Participants were highly motivated to explore raw DNA for ancestral information (67%), individual health implications (62%), or both (40%). Participants primarily used one of seven companies to interpret raw DNA; 73% used more than one. Company choice was driven by the type of results offered (51%), price (45%), and online reviews (31%). Approximately 30% of participants shared results with a medical provider and 21% shared with more than one. Outcomes of sharing ranged from disinterest/discounting of the information to diagnosis of genetic conditions. Participants were highly satisfied with their decision to analyze raw DNA (M = 4.54/5), yet challenges in understanding interpretation results were reported irrespective of satisfaction ratings. CONCLUSION: Consumers face challenges in understanding the results and may seek out clinical assistance in interpreting their raw DNA results.

Rural-urban and racial-ethnic differences in awareness of direct-to-consumer genetic testing.

BACKGROUND: Access to direct-to-consumer genetic testing services has increased in recent years. However, disparities in knowledge and awareness of these services are not well documented. We examined awareness of genetic testing services by rural/urban and racial/ethnic status. METHODS: Analyses were conducted using pooled cross-sectional data from 4 waves (2011-2014) of the Health Information National Trends Survey (HINTS). Descriptive statistics compared sample characteristics and information sources by rural/urban residence. Logistic regression was used to examine the relationship between geography, racial/ethnic status, and awareness of genetic testing, controlling for sociodemographic characteristics. RESULTS: Of 13,749 respondents, 16.7% resided in rural areas, 13.8% were Hispanic, and 10.1% were non-Hispanic black. Rural residents were less likely than urban residents to report awareness of genetic testing (OR = 0.74, 95% CI = 0.63-0.87). Compared with non-Hispanic whites, racial/ethnic minorities were less likely to be aware of genetic testing: Hispanic (OR = 0.68, 95% CI = 0.56-0.82); and non-Hispanic black (OR = 0.74, 95% CI = 0.61-0.90). CONCLUSIONS: Rural-urban and racial-ethnic differences exist in awareness of direct-to-consumer genetic testing. These differences may translate into disparities in the uptake of genetic testing, health behavior change, and disease prevention through precision and personalized medicine.

Direct-to-Consumer Genetic Testing and Orphan Drug Development.

Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from <100 per decade to over 200 per year. This growth is widely attributed to the financial incentives the ODA gives to companies that develop these medicines, and it is likely to continue for a unique reason: partnerships between pharmaceutical firms and direct-to-consumer (DTC) genetic testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing. It then outlines how DTC companies analyze DNA and how their techniques benefit researchers and drug developers. Then, after an overview of the current partnerships between DTCs and drug developers, it examines concerns about privacy and cost brought up by these partnerships. The article concludes by contrasting the enormous positive potential of DTC-pharma relationships and their concomitant dangers, especially to consumer privacy and cost to the healthcare system.