PARC report: a perspective on the state of clinical pharmacogenomics testing.

In this Perspective, the authors discuss the state of pharmacogenomics testing addressing a number of advances, challenges and barriers, including legal ramifications, changes to the regulatory landscape, coverage of testing and the implications of direct-to-consumer genetic testing on the provision of care to patients. Patient attitudes toward pharmacogenomics testing and associated costs will play an increasingly important role in test acquisition and subsequent utilization in a clinical setting. Additional key steps needed include: further research trials demonstrating clinical utility and cost-effectiveness of pharmacogenetic testing, evidence review to better integrate genomic information into clinical practice guidelines in target therapeutic areas to help providers identify patients that may benefit from pharmacogenetic testing and engagement with payers to create a path to reimbursement for pharmacogenetic tests that currently have sufficient evidence of clinical utility. Increased adoption of testing by payers and improved reimbursement practices will be needed to overcome barriers, especially as the healthcare landscape continues to shift toward a system of value-based care.

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.

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.

Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan.

INTRODUCTION: The 'one biomarker/one drug' scenario is unsustainable because cancer is a complex disorder that involves a number of molecular defects. In the past decade, major technological advances have lowered the overall cost and increased the efficiency of next-generation sequencing (NGS). AREAS COVERED: We review recent regulations on NGS and complementary diagnostics in Japan, mainly focusing on high-quality studies that utilized these new diagnostic modalities and were published within the last 5 years. We highlight significant changes in regulation, and explain the direction of efforts to translate the results of NGS and complementary diagnostics into clinical practice. EXPERT OPINION: NGS holds a number of advantages over conventional companion and complementary diagnostics that enable simultaneous analyzes of multiple cancer genes to detect actionable mutations. Parallel technological developments and regulatory changes have led to the rapid adoption of NGS into clinical practice. NGS-based genomic data have been leveraged to better understand the characteristics of a disease that affects its patient's response to a given therapy. As NGS-based tests become more widespread, however, Japanese authorities will face significant challenges particularly with respect to the complexity of genomic data, which will have to be managed if NGS is to benefit patients.

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.

[Patient-initiated diagnostics - a challenge for laboratory medicine]. / Egenordinerad provtagning kan ge laboratoriemedicinen ny roll.

Citizens can now order their own laboratory investigations. Self-testing is in line with increasing patient empowerment and in conflict with existing routines in medicine where all tests are ordered by the physician. Several challenges have to be faced by laboratory medicine to secure the quality and increase the medical benefits of patient-initiated diagnostics.

Self-sampling kits to increase HIV testing among black Africans in the UK: the HAUS mixed-methods study.

BACKGROUND: Timely diagnosis of human immunodeficiency virus (HIV) enables access to antiretroviral treatment, which reduces mortality, morbidity and further transmission in people living with HIV. In the UK, late diagnosis among black African people persists. Novel methods to enhance HIV testing in this population are needed. OBJECTIVES: To develop a self-sampling kit (SSK) intervention to increase HIV testing among black Africans, using existing community and health-care settings (stage 1) and to assess the feasibility for a Phase III evaluation (stage 2). DESIGN: A two-stage, mixed-methods design. Stage 1 involved a systematic literature review, focus groups and interviews with key stakeholders and black Africans. Data obtained provided the theoretical base for intervention development and operationalisation. Stage 2 was a prospective, non-randomised study of a provider-initiated, HIV SSK distribution intervention targeted at black Africans. The intervention was assessed for cost-effectiveness. A process evaluation explored feasibility, acceptability and fidelity. SETTING: Twelve general practices and three community settings in London. MAIN OUTCOME MEASURE: HIV SSK return rate. RESULTS: Stage 1 - the systematic review revealed support for HIV SSKs, but with scant evidence on their use and clinical effectiveness among black Africans. Although the qualitative findings supported SSK distribution in settings already used by black Africans, concerns were raised about the complexity of the SSK and the acceptability of targeting. These findings were used to develop a theoretically informed intervention. Stage 2 - of the 349 eligible people approached, 125 (35.8%) agreed to participate. Data from 119 were included in the analysis; 54.5% (65/119) of those who took a kit returned a sample; 83.1% of tests returned were HIV negative; and 16.9% were not processed, because of insufficient samples. Process evaluation showed the time pressures of the research process to be a significant barrier to feasibility. Other major barriers were difficulties with the SSK itself and ethnic targeting in general practice settings. The convenience and privacy associated with the SSK were described as beneficial aspects, and those who used the kit mostly found the intervention to be acceptable. Research governance delays prevented implementation in Glasgow. LIMITATIONS: Owing to the study failing to recruit adequate numbers (the intended sample was 1200 participants), we were unable to evaluate the clinical effectiveness of SSKs in increasing HIV testing in black African people. No samples were reactive, so we were unable to assess pathways to confirmatory testing and linkage to care. CONCLUSIONS: Our findings indicate that, although aspects of the intervention were acceptable, ethnic targeting and the SSK itself were problematic, and scale-up of the intervention to a Phase III trial was not feasible. The preliminary economic model suggests that, for the acceptance rate and test return seen in the trial, the SSK is potentially a cost-effective way to identify new infections of HIV. FUTURE WORK: Sexual and public health services are increasingly utilising self-sampling technologies. However, alternative, user-friendly SSKs that meet user and provider preferences and UK regulatory requirements are needed, and additional research is required to understand clinical effectiveness and cost-effectiveness for black African communities. STUDY REGISTRATION: This study is registered as PROSPERO CRD42014010698 and Integrated Research Application System project identification 184223. FUNDING: The National Institute for Health Research Health Technology Assessment programme and the BHA for Equality in Health and Social Care.

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.

Assessment of Direct-to-Consumer Genetic Testing Policy in Korea Based on Consumer Preference.

AIMS: In June 2016, Korea permitted direct-to-consumer genetic testing (DTC-GT) on 42 genes. However, both the market and industry have not yet been fully activated. Considering the aforementioned context, this study provides important insights. METHODS: The Korean DTC-GT policy assessment is based on consumer preference analysis using a discrete choice experiment. In August 2016, a web-based survey was conducted to collect data from 1,200 respondents. RESULTS: The estimation results show that consumers prefer a DTC-GT product that is cheap, tests various items or genes, offers accurate test results, and guarantees the confidentiality of all information. However, consumers are not entirely satisfied by current DTC-GT products due to the existence of insufficient and/or inadequate policies. First, the permitted testing of 42 genes is insufficient to satisfy consumers' curiosity regarding their genes. Second, the accuracy of the DTC-GT products has not been fully verified, assessed, and communicated to consumers. Finally, regulatory loopholes that allow information leaks in the DTC-GT process can occur. CONCLUSIONS: These findings imply that DTC-GT requires an improvement in government policy-making criteria and the implementation of practical measures to guarantee test accuracy and genetic information.

Transparency of genetic testing services for 'health, wellness and lifestyle': analysis of online prepurchase information for UK consumers.

The declining cost of DNA sequencing has been accompanied by a proliferation of companies selling 'direct-to-consumer genetic testing' (DTC-GT) services. Many of these are marketed online as tools for enabling citizens to make more informed decisions about their health, wellness and lifestyle. We assessed the 'information for consumers' provided by these companies at the prepurchase stage, which could influence initial decisions to part with money, data or tissue samples. A scoping exercise revealed 65 DTC-GT companies advertising their services online to consumers in the United Kingdom, of which 15 met our inclusion criteria. We benchmarked their consumer information against the good practice principles developed by the UK Human Genetics Commission (HGC). No provider complied with all the HGC principles and overall levels of compliance varied considerably. Although consent for testing was discussed by all but one company, information about data reuse for research or other purposes was often sparse and consent options limited or unclear. Most did not provide supplementary support services to help users better understand or cope with the implications of test results. We provide recommendations for updating the preconsumer transparency aspects of the HGC guidelines to ensure their fitness-for-purpose in this rapidly changing market. We also recommend improving coordination between relevant governance bodies to ensure minimum standards of transparency, quality and accountability. Although DTC-GT has many potential benefits, close partnership between consumers, industry and government, along with interdisciplinary science input, are essential to ensure that these innovations are used ethically and responsibly.

A survey of direct-to-consumer teledermatology services available to US patients: Explosive growth, opportunities and controversy.

Introduction Direct-to-consumer (DTC) teledermatology is radically changing the way patients obtain dermatological care. Now, with a few clicks, patients can obtain dermatological consultations and prescription medications without a prior physician-patient relationship. To analyse all DTC teledermatology services available to US patients. Methods We performed Internet searches to identify DTC teledermatology services available through Internet webpages or through smartphone applications. For each service, the scope of care provided, cost, wait times, prescription policies and other relevant information were recorded. Results Twenty-two DTC teledermatology services are available to US patients in 45 states. Six (27%) services offer care from international physicians. Sixteen (73%) services allow patients to seek care for any reason, while six (27%) limit care to acne or anti-aging. The median reported response time for DTC teledermatology services is 48 hours from the time of patient request. The median consultation fee for companies providing care from US board-certified physicians is US$59. Across all services, consultation fees range from US$1.59 to US$250. Conclusions DTC teledermatology services are readily available to patients in most states. These services may reduce the cost of patient visits, expand access to care and increase patient convenience. However, the presence of services staffed by physicians who are not US board-certified, as well as the use of incautious language regarding prescription medications, is concerning.

Availability, Accessibility, and Price of Rapid HIV Self-Tests, New York City Pharmacies, Summer 2013.

We conducted an in-person survey of New York City (NYC) pharmacies to assess the availability, accessibility, and price of the over-the-counter, rapid HIV self-test kit. NYC pharmacies were stratified into high, moderate and low morbidity neighborhoods by the HIV diagnosis rate of the neighborhood in which the pharmacy was located. A random sample of 500 pharmacies was taken [250 from high morbidity neighborhoods (HighMN) and 250 from low morbidity neighborhoods (LowMN)]. Pharmacies were excluded if: closed during survey, non-retail, or >10 min walk from subway. Project staff visited pharmacies to determine kit availability (in pharmacy on day of survey), accessibility (not locked/behind counter), and price (marked on shelf/product). Of 361 pharmacies (161 LowMN; 200 HighMN), kits were available in 27 % and accessible in 10 %; there was no difference by neighborhood. Kits were most often kept behind the pharmacy counter; this was more common in HighMN than in LowMN. Kits were kept solely behind the pharmacy counter in 52 %. Median price was US $42.99 without variability across neighborhoods. The rapid HIV self-test had limited availability and access in retail pharmacies. The high median price measured suggests that cost remained a barrier.