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.

Direct-to-Consumer Genetic Testing: Value and Risk.

Although the explosive growth of direct-to-consumer (DTC) genetic testing has moderated, a substantial number of patients are choosing to undergo genetic testing outside the purview of their regular healthcare providers. Further, many industry leaders have been expanding reports to cover many more genes, as well as partnering with employers and others to expand access. This review addresses continuing concerns about DTC genetic testing quality, psychosocial impact, integration with medical practice, effects on the healthcare system, and privacy, as well as emerging concerns about third-party interpretation services and non-health-related uses such as investigative genetic genealogy. It concludes with an examination of two possible futures for DTC genetic testing: merger with traditional modes of healthcare delivery or continuation as a parallel system for patient-driven generation of health-relevant information. Each possibility is associated with distinctive questions related to value and risk.

The Future of DTC Genomics and the Law.

Direct-to-Consumer ("DTC") genomics has been a controversial topic for over a decade. Much work has been done on the legal issues it raises. This article asks a different question: What will DTC genomics and its legal issues look like in ten to twenty years? After discussing the five current uses of DTC genomics, it describes three current legal issues: medical uses, privacy of genomic information, and privacy in collection and analysis of human DNA. It then suggests that changes in human genomics and how it is used will make the first of those DTC genomics legal issues less important in the future, but that the third will be increasingly significant.

Quantifying fertility? Direct-to-consumer ovarian reserve testing and the new (in)fertility pipeline.

Frequently branded the "egg timer" or "biological clock test," anti-Müllerian hormone (AMH) testing for women is becoming widely available in the United States (US) through online, direct-to-consumer (DTC) testing services. The level of AMH in the blood reflects the remaining egg supply or "ovarian reserve"-a potential fertility indicator. AMH level is primarily used as a diagnostic tool prior to ovarian stimulation for in vitro fertilization (IVF) or oocyte cryopreservation (OC; i.e., egg freezing). This article describes the first ethnographic research on DTC ovarian reserve testing in the US, with a recruited sample of 21 participants interested in pursuing testing who consented to participant observation and semi-structured interviews. Fieldwork took place from January 2018 to July 2018 in Chicago, Illinois. Ethnographic cases explore how experiences with ovarian reserve testing are shaped by relationship status, sexual orientation, socioeconomic status, racial/ethnic identity, and medical insurance coverage. Thematic analysis suggests that DTC ovarian reserve testing is a unique means of investigating fertility; participants felt empowered by receiving testing outside of traditional medical contexts. It was an alternative tool for family planning, particularly for LGBTQ + individuals and single women. However, participants experienced varying degrees of certainty about test results and the appropriate next steps to take to confirm fertility status, preserve fertility, or conceive, thus suggesting that DTC testing may confound reproductive decision-making. I argue that DTC ovarian reserve testing is a new tool in a larger medical and social project to mitigate anticipated future infertility and is an entry point into what I term the new (in)fertility pipeline encouraging entanglement with reproductive technologies across the lifespan. Due to its low cost and widespread availability, DTC ovarian reserve testing reaches a broader demographic, encourages testing across diverse identities and backgrounds, and increases awareness of more advanced assisted reproductive technology (ART), including egg freezing.

Ready or not, here it comes: Direct-to-consumer pharmacogenomic testing and its implications for community pharmacists.

OBJECTIVE: To explore the implications of direct-to-consumer pharmacogenomic testing for community pharmacy practice. SUMMARY: In October 2018, the U.S. Food and Drug Administration provided approval for direct-to-consumer genetic testing company, 23andMe (Mountain View, CA), to return select pharmacogenomic test results to their customers. Given the community pharmacist's high accessibility to the public and in-depth knowledge of pharmacology, and the availability of direct-to-consumer genetic testing kits at pharmacies, it is likely that patients will present their pharmacogenomic test results to their pharmacists and expect them to incorporate those results into their care. It is important, therefore, that community pharmacists are aware of the clinical implications of these results, know where to turn for evidence-based clinical pharmacogenomics information, and be mindful of the need for confirmatory testing before changing therapy. CONCLUSION: Community pharmacists are at the frontlines of health care, and as such will be at the frontlines of direct-to-consumer pharmacogenomic testing. In the near future, it is likely that community pharmacists will need to counsel patients on the interpretation and appropriate use of direct-to-consumer pharmacogenomic test results.

Bringing Genetics Home.

The promise of human genetics and genomics is nothing less than a fully tailored life, starting with medical treatments, diets, and preventative care all styled around a single genome. There's a lighter side as well where consumer genomics companies are helping people understand themselves and their families. Lara Szewczak spoke with Catherine Ball, Chief Scientific Officer at Ancestry, about the science of consumer genomics and what it might mean for an individual to take charge of their own sequence. Excerpts from this conversation are presented below, and the full conversation is available with the article online.

A New Wave of Genomics for All.

Millions of people have taken direct-to-consumer DNA tests, but not everyone is happy with the status quo. Several startups in the genetic testing space are aiming to empower individuals and build communities in order to boost research and, ultimately, public health.

Direct-To-Consumer Genetic Testing: Is the Public Ready for Simple, At-Home DNA Tests to Detect Disease Risk?

Most genetic testing requires a doctor's prescription. In April 2017, however, the U.S. Food and Drug Administration (FDA) gave genetics company 23andMe the go-ahead to sell DNA tests assessing the user's level of risk for ten health conditions, including Parkinson's disease and late-onset Alzheimer's disease. This was followed nearly a year later by approval to sell tests for three mutations in the genes BRCA1 and BRCA2 linked to increased breast cancer risk. These remain the only FDA-approved direct-to-consumer (DTC) tests for genetic risk of disease.

Direct-to-consumer genetic testing: Perspectives on its value in healthcare.

The direct-to-consumer genetic testing debate reached a fever pitch in November 2013 when the US Food and Drug Administration (FDA) instructed 23andMe to discontinue marketing and sale of their Personal Genome Service. In 2015, 23andMe emerged with FDA approval to market a carrier test for Bloom syndrome only, and plans to release additional reports. The dust has settled and it is time to ask: What have we learned, and where do we go from here?