Assessment of primary care practitioners' attitudes and interest in pharmacogenomic testing.

Aims: Identify the attitudes and interests of primary care providers (PCPs) in applying clinical pharmacogenomics (PGx) test results. Materials & methods: A questionnaire was designed and then disseminated to PCPs across the MedStar Health System. Results: Ninety of 312 (29%) PCPs responded and were included in analyses. Seventy-six (84%) had heard of PGx and 12 (13%) previously ordered PGx testing. Most, 68 (76%), believed PGx can improve care; however, a minority, 23 (26%), reported confidence in using PGx in prescribing decisions. Sixty-four (70%) wanted a pharmacist consultation. PCPs desired PGx for antidepressants (75%), proton pump inhibitors (72%) and other medications. Conclusion: Most PCPs felt unprepared to interpret PGx results and desired pharmacist consultations. These data can inform future PGx implementations with PCPs.

Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos.

BACKGROUND: With the rapid advances in gene technologies in recent years, the potential benefits of precision medicine (PM) may spread unevenly to disadvantaged populations, such as Hispanics/Latinos. The objective of this study was to explore patient-level barriers and facilitators to dissemination and adoption of PM among Hispanics/Latinos, including knowledge and awareness. METHODS: Self-identified Hispanics/Latinos from diverse countries in Latin America (N = 41) participated in the study. Using a cross-sectional observational qualitative research design, six focus groups and a demographic questionnaire were collected in English and Spanish. Qualitative content analysis was utilized to code the transcripts and identify emerging themes. RESULTS: Hispanics/Latinos never heard of and had no knowledge about PM. Barriers to dissemination and adoption of PM included lack of health insurance, financial burden, participants' immigration status, distrust of government, limited English proficiency, low literacy levels, cultural norms, fear about genetic testing results, lack of transportation, newness of PM, and lack of information about PM. Facilitators included family support; information provided in Spanish; use of plain language and graphics; assistance programs for uninsured; trust in physicians, healthcare staff, well-known hospitals, academic institutions, and health care providers and community organization as sources of reliable information; personal motivation, and altruism or societal benefit. CONCLUSIONS: Culturally-and linguistically-tailored, low-literacy educational material about PM should be created in English and Spanish. Future research should examine provider-level and system-level barriers and facilitators to implementation and adoption of PM among Hispanic/Latino patients.

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research.

PURPOSE: Returning genetic results to research participants is gaining momentum in the USA. It is believed to be an important step in exploring the impact of efforts to translate findings from research to bedside and public health benefits. Some also hope that this practice will incentivize research participation, especially among people from historically marginalized communities who are commonly underrepresented in research. However, research participants' interest in receiving nongenomic medical and nonmedical results that may emerge from precision medicine research (PMR) is understudied and no study to date has explored the views of people with disabilities about return of genomic and nongenomic results from PMR. METHODS: In a national online survey of people with disabilities, participants were queried about their interest in receiving biological, environmental, and lifestyle results from PMR (n = 1,294). Analyses describe findings for all of the participants and comparisons for key demographic characteristics and disability subgroups. RESULTS: The participants expressed high interest in biological and health-related results and less interest in other findings. However, the interest among the study participants was lower than that found in comparable studies of the general population. Moreover, this interest varied significantly across gender, race/ethnicity, and disability subgroups. Possible reasons for these differences are discussed. CONCLUSION: Insofar as return of results from PMR may impact translational efforts, it is important to better understand the role of sociomedical marginalization in decisions about return of results from PMR and to develop strategies to address existing barriers.

Can Precision Medicine Actually Help People Like Me? African American and Hispanic Perspectives on the Benefits and Barriers of Precision Medicine.

Objective: To better understand African American and Hispanic perspectives on the potential benefits of precision medicine, along with the potential barriers that may prevent precision medicine from being equally beneficial to all. We also sought to identify if there were differences between African American and Hispanic perspectives. Design: Six semi-structured focus groups were conducted between May 2017 and February 2018 to identify benefits and barriers to precision medicine. Three groups occurred in Nashville, TN with African American participants and three groups occurred in Miami, FL with Hispanic participants. Setting: At community-based and university sites convenient to community partners and participants. Participants: A total of 55 individuals participated (27 in Nashville, 28 in Miami). The majority of participants were women (76.5%) and the mean age of participants was 56.2 years old. Results: Both African Americans and Hispanics believed precision medicine has the potential to improve medicine and health outcomes by individualizing care and decreasing medical uncertainty. However, both groups were concerned that inadequacies in health care institutions and socioeconomic barriers would prevent their communities from receiving the full benefits of precision medicine. African Americans were also concerned that the genetic and non-genetic personal information revealed through precision medicine would make African Americans further vulnerable to provider racism and discrimination in and outside of health care. Conclusions: While these groups believed precision medicine might yield benefits for health outcomes, they are also skeptical about whether African Americans and Hispanics would actually benefit from precision medicine given current structural limitations and disparities in health care access and quality.

The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies.

BACKGROUND: Racial/ethnic minority populations in the United States are consistently underrepresented in genetic research. Large-scale public participation is required to ensure discoveries from precision medicine research are applicable to everyone. To evaluate views toward and facilitators of participation among minority populations in the United States, we conducted a systematic review of literature. METHODS: Six databases were searched for articles published from 2005 to 2018 assessing minority populations' views and/or willingness to participate in genetic research. A thematic framework was applied to extracted data to synthesize findings, and the Socio-Ecological Model was used to evaluate papers. RESULTS: Review of 2,229 titles and abstracts identified 27 papers (n = 8 qualitative, n = 19 quantitative). Themes included knowledge of genetics, engagement in research, facilitators and barriers to participation, and cultural considerations. Understanding of genetics was low, yet the majority of participants were willing to participate in genetic research among all populations included in the literature (range: 57%-97%). Recommendations for research included utilizing community-based participatory approaches, evaluating participants' informational needs, incentivizing participation, and providing direct benefits (e.g., genetic test results). CONCLUSION: Results could influence future study designs that incorporate all levels of the Socio-Ecological Model and better meet the needs of underrepresented groups, thereby ensuring precision medicine research findings are applicable to all.

Self-management skills and behaviors, self-efficacy, and quality of life in people with epilepsy from underserved populations.

PURPOSE: People with epilepsy (PWE) from underserved populations face significant barriers to epilepsy management and therefore may lack knowledge about epilepsy and self-management (SM) of epilepsy. This paper evaluates SM practices, self-efficacy, outcome expectancy, quality of life, and personal impact of epilepsy in PWE from underserved populations as compared with all PWE. METHODS: Recruitment for the Managing Epilepsy Well (MEW) Network PAUSE to Learn Your Epilepsy study occurred from October 2015 to March 2019. Participants were assessed at baseline; after SM education intervention; and 6-, 9-, and 15-month postbaseline assessment. Baseline data from 112 PWE were analyzed for this report. RESULTS: Study population was diverse: 63% were women, 47.3% were non-Hispanic black, 24.1% were Hispanic, and 57.4% had public healthcare coverage. Participants on average had epilepsy for 14 years, and 49.1% reported at least one seizure within the past month, but only 27% reported having used a seizure diary or calendar for seizure tracking. Self-management practices & behaviors were significantly lower among PWE from underserved populations than all PWE, though self-efficacy among PWE from underserved populations was significantly higher. CONCLUSION: This study identifies the unique epilepsy SM needs of PWE from underserved populations. We discuss the need for a personalized approach for developing SM skills and behaviors among these PWE.

Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

Pharmacogenomic (PGx) tests represent significant advances in precision medicine. Our aim was to explore perceptions following the return of PGx results, medication management, and disclosure to providers. We surveyed clients who had PGx testing and conducted a chart review of PGx results. Respectively, 84% and 94% of participants found pre- and post-test genetic counseling helpful. There was a significant difference in disclosure, while 6% disclosed results to a pharmacist, 50% disclosed to a physician. Qualitative analysis identified three themes: 1) psychological response; 2) perceived utility; 3) experiences with disclosure. Our study supports the provision of genetic counseling for a non-disease related genetic test. Benefits of PGx testing can be optimized by the collaboration of physicians, pharmacists, genetic counselors and patients.

Personalized Risk-Stratified Cancer Follow-Up Care: Its Potential for Healthier Survivors, Happier Clinicians, and Lower Costs.

The growth in the number of cancer survivors in the face of projected health-care workforce shortages will challenge the US health-care system in delivering follow-up care. New methods of delivering follow-up care are needed that address the ongoing needs of survivors without overwhelming already overflowing oncology clinics or shuttling all follow-up patients to primary care providers. One potential solution, proposed for over a decade, lies in adopting a personalized approach to care in which survivors are triaged or risk-stratified to distinct care pathways based on the complexity of their needs and the types of providers their care requires. Although other approaches may emerge, we advocate for development, testing, and implementation of a risk-stratified approach as a means to address this problem. This commentary reviews what is needed to shift to a risk-stratified approach in delivering survivorship care in the United States.

Trial of personalised care after treatment-Prostate cancer: A randomised feasibility trial of a nurse-led psycho-educational intervention.

OBJECTIVE: The present parallel randomised control trial evaluated the feasibility of a nurse-led psycho-educational intervention aimed at improving the self-management of prostate cancer survivors. METHODS: We identified 305 eligible patients from a district general hospital, diagnosed 9-48 months previously, who completed radical treatment, or were monitored clinically (ineligible for treatment). Ninety-five patients were recruited by blinded selection and randomised to Intervention (N = 48) and Control (N = 47) groups. Participant allocation was revealed to patients and researchers after recruitment was completed. For 36 weeks, participants received augmented usual care (Control) or augmented usual care and additional nurse support (Intervention) provided in two community hospitals and a university clinic, or by telephone. RESULTS: Data from 91 participants (Intervention, N = 45; Control, N = 46) were analysed. All feasibility metrics met predefined targets: recruitment rate (31.15%; 95% CI: 25.95%-36.35%), attrition rate (9.47%; 95% CI: 3.58%-15.36%) and outcome measures completion rates (77%-92%). Forty-five patients received the intervention, with no adverse events. The Extended Prostate Cancer Index Composite can inform the minimum sample size for a future effectiveness trial. The net intervention cost was £317 per patient. CONCLUSIONS: The results supported the feasibility and acceptability of the intervention, suggesting that it should be evaluated in a fully powered trial to assess its effectiveness and cost-effectiveness.

Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication.

Effective communication, where all parties share a common understanding, is necessary to realize the promise of Genomic Medicine. It is especially salient given the imperative to increase the participation of diverse populations in genomics research and to expand the reach of clinical genomics. We have previously shown that cancer genetic counseling is suboptimal for patients with limited health literacy. To address this finding, we implemented a pilot study to improve verbal communication between genetic counselors and their patients of limited health literacy that consisted of: i) curriculum development and delivery of a Genetic Counselors (GC) communication workshop; ii) two-month post-workshop interviews with GC participants (n = 9); iii) observations/audio recordings of counseling sessions involving 24 patients and two GC workshop participants; iv) post-counseling interviews with patients (n = 9). The 4.5-h workshop presented evidenced-based principles and strategies for effective communication with limited health literacy patients (e.g. use of plain language and teach-back), and offered specific techniques and exercises to practice adoption of such practices in the genetic counseling context. GCs expressed appreciation for the opportunity to refine their skills; however, they reported that some strategies were challenging given their professional training and communication habits. For example, GCs were concerned that use of plain language could undermine efforts to obtain informed consent and provide scientifically accurate information. Observations and patient interviews after the workshop revealed that GCs were able to employ the communication strategies with positive effects, with patients indicating sufficient understanding of the genetic test and its implications as well as satisfaction with the counselors' communication. While derived from research on communication with those of limited health literacy, the communication approaches taught in the GC workshop could benefit most patients, given the high rates of low health literacy in many countries, and the many factors beyond health literacy that can contribute to reduced comprehension in health care environments.

Patient preferences for personalized (N-of-1) trials: a conjoint analysis.

OBJECTIVE: Despite their promise for increasing treatment precision, Personalized Trials (i.e., N-of-1 trials) have not been widely adopted. We aimed to ascertain patient preferences for Personalized Trials. STUDY DESIGN AND SETTING: We recruited 501 adults with ≥2 common chronic conditions from Harris Poll Online. We used Sawtooth Software to generate 45 plausible Personalized Trial designs comprising combinations of eight key attributes (treatment selection, treatment type, clinician involvement, blinding, time commitment, self-monitoring frequency, duration, and cost) at different levels. Conditional logistic regression was used to assess relative importance of different attributes using a random utility maximization model. RESULTS: Overall, participants preferred Personalized Trials with no costs vs. $100 cost (utility difference 1.52 [standard error 0.07], P < 0.001) and with less vs. more time commitment/day (0.16 [0.07], P < 0.015) but did not hold preferences for the other six attributes. In subgroup analyses, participants ≥65 years, white, and with income ≤$50,000 were more averse to costs than their counterparts (P all <0.05). CONCLUSION: To optimize dissemination, Personalized Trial designers should seek to minimize out-of-pocket costs and time burden of self-monitoring. They should also consider adaptive designs that can accommodate subgroup differences in design preferences.

Patients' characteristics informing practice: improving individualized nursing care in the radiation oncology setting.

PURPOSE: A large number of patients attend for radiotherapy daily. Primary nurses in the study settings aim to individualize care for their patients. The individual characteristics of patients may determine their perceptions of nursing care, and provide guidance in tailoring their care. This study aimed to assess patients' personal characteristics on their perceptions of individualized care (IC) provided by nurses during a course of radiotherapy, and to determine predictor variables that may inform nursing practice. METHODS: This cross-sectional, exploratory study was conducted in three radiotherapy departments in Australia. Patients (n = 250) completed the Individualized Care Scale_Patient (ICS_P). Data were analyzed using descriptive and inferential statistics, univariate analysis, and multiple regression analysis. RESULTS: Males reported significantly higher perceptions of IC than females in 7/9 subscales. Patients with head and neck and prostate cancer, as well as those requiring hospitalization during radiotherapy, scored significantly higher in 5/9 subscales. Courses > 30 days, those not receiving chemotherapy, and partnered patients reported greater IC across all subscales. Gender and hospitalization were the main predictor variables for IC. CONCLUSION: Patients reported moderately high levels of IC during their radiotherapy; however, standard demographic information may provide limited insight into improving care for the individual. Patient characteristics routinely chosen, such as age, gender, and education may not predict how patients perceive their care or support the tailoring of interventions to improve IC. Researching a range of related patient characteristics may prove a more useful concept for future nursing studies aiming to predict outcomes to tailor nursing practice.

Beliefs about Genetically Targeted Care in African Americans.

We examined beliefs about genetically targeted care (GTC) among African American men and women in a hospital-based sample and identified sociodemographic, cultural, and clinical factors having significant independent associations with these beliefs. Specifically, beliefs about GTC were evaluated after respondents were randomly primed with a racial or non-racial cue about race and genetics. Despite priming with a racial or non-racial cue, many respondents had positive beliefs about GTC. But, 49% believed that GTC would limit access to medical treatment, 46% believed that people will not trust GTC, and 20% believed that people like them would not benefit from GTC. Racial and non-racial priming did not have significant associations with negative beliefs about GTC. However, cultural beliefs related to temporal orientation were associated significantly with believing that genetically targeted care will limit access to medical treatment. Greater levels of future temporal orientation were associated with a reduced likelihood of endorsing this belief (OR = 0.70, 95% CI = 0.49, 1.01, p = 0.05). Respondents who had a chronic medical condition had an almost three-fold greater likelihood of believing that they would not benefit from GTC (OR = 2.90, 95% CI = 1.00, 8.37, p = 0.05). Greater exposure to information about genetic testing for chronic conditions was also associated with a reduced likelihood of believing that they would not benefit from GTC (OR = 0.40, 95% CI = 0.64, 0.91, p = 0.02). African Americans have diverse beliefs about GTC that should be considered as genetic and genomic services are offered.

Barriers preventing the adoption of comprehensive cancer genomic profiling in the clinic.

INTRODUCTION: Comprehensive cancer genomic profiling provides the opportunity to expose the various molecular aberrations potentially driving tumor progression. Consequently, the identity of these genetic drivers can be utilized to match a patient to the most appropriate targeted therapy, thereby increasing the probability of improved clinical outcome. Despite its capability of informing patient care, the adoption of comprehensive cancer genomic profiling in the clinic has not been widespread. The barriers surrounding its universal acceptance are attributed to both physician and patient perspectives. Areas covered: The following report discusses the various obstacles in place, including those related to clinical utility, education, insurance coverage, and clinical trials, which can deter physicians and patients from utilizing genomic profiling for therapeutic decision-making. Expert commentary: The authors review the recent growth and potential of clinical utility studies over the last two years, provide a suggestive framework for educational support, and comment on the use of social media to enhance clinical trial recruitment.

Views of Cohort Study Participants about Returning Research Results in the Context of Precision Medicine.

BACKGROUND: The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research. METHODS: Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min. Topics explored in this study include which types of genetic test results participants of large biorepositories expect and would like to receive from research analyzing their samples, as well as thoughts on best practice for conducting this type of research. RESULTS: Cancer cases, controls, and first-degree relatives have differing views on what results they would like to receive from biorepository-based research. Participants across all groups attempted to balance the costs and benefits of returning individual research results. DISCUSSION: In the wake of precision medicine, it is important to describe the range of ways participants in large biorepositories both think and talk about the utilization of their specimens for genetics research.

How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.

AIM: To assess customer comprehension of health-related personal genomic testing (PGT) results. METHODS: We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer's disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. RESULTS: Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1-97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6-74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores. CONCLUSIONS: Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics.

Ask not what personalized medicine can do for you--ask what you can do for personalized medicine.

BACKGROUND: Personalized medicine (PM) aims to offer tailored health care to individuals on the basis of their genetic profile. This paper explores the types of behaviors and practices that citizens are expected to adopt under PM, examines whether such expectations are realistic, and proposes strategies that could support citizens in the adoption of these behaviors. METHODS: Recent reports from national and international medical organizations and funders of PM are reviewed to investigate the types of behaviors and practices that citizens are expected to adopt under PM. These behaviors are examined in light of the current knowledge regarding citizen involvement in health care. RESULTS: Under PM, citizens are expected to be much more educated, proactive, and engaged in their health care than under conventional medical models. Actualizing such behaviors and practices may, however, be difficult or even unattainable for some groups of citizens. CONCLUSIONS: Educating citizens in PM, as proposed in the reports, is important but may not suffice for the adoption of new behaviors and practices by a majority of citizens. Approaches taking into consideration the heterogeneity of backgrounds, abilities, and resources among citizens are needed and include modifying reimbursement and pricing mechanisms, diversifying research, and developing low-cost PM programs.

An index of barriers for the implementation of personalised medicine and pharmacogenomics in Europe.

BACKGROUND: Personalised medicine (PM) is an innovative way to produce better patient outcomes by using an individualised or stratified approach to disease and treatment rather than a collective treatment approach for patients. Despite its tangible advantages, the complex process to translate PM into the member states and European healthcare systems has delayed its uptake. The aim of this study is to identify relevant barriers represented by an index to summarise challenging areas for the implementation of PM in Europe. METHODS: A systematic literature review was conducted, and a gaps-and-needs assessment together with a strengths-weaknesses-opportunities-and-threats analysis were applied to review strategic reports and conduct interviews with key stakeholders. Furthermore, surveys were sent out to representatives of stakeholder groups. The index was constructed based on the priorisation of relevant factors by stakeholders. RESULTS: A need for stakeholder-agreed standards at all levels of implementation of PM exists, from validating biomarkers to definitions of 'informed consent'. The barriers to implement PM are identified in 7 areas, namely, stakeholder involvement, standardisation, interoperable infrastructure, European-level policy making, funding, data and research, and healthcare systems. CONCLUSIONS: Challenges in the above-mentioned areas can and must be successfully tackled if we are to create a healthier Europe through PM. In order to create an environment in which PM can thrive for the patients' best outcomes, there is an urgent need for systematic actions to remove as many barriers as possible.

Playing a part in research? University students' attitudes to direct-to-consumer genomics.

AIMS: This study examined the attitudes of 1,146 Swiss University students to direct-to-consumer (DTC) genomic testing and to genomic research participation. METHODS: Data were collected through a self-completion online questionnaire by students from 2 higher education institutions in Zurich, Switzerland. The survey aimed to capture motivation for undergoing or refraining from genomic testing, reactions to mock genetic risk results, and views about contributing data to scientific research. Descriptive and inferential statistics were used for the analysis. RESULTS: A total of 1.5% of the students had undergone testing. Most respondents were studying natural sciences and were interested in undergoing DTC genomic testing. The main motive was to contribute their data to scientific research, followed closely by their interest to find out disease risks and personal traits. Overall, 41% of the respondents were not interested in DTC tests. The primary reasons were concerns about receiving potentially worrying results. There was a significant correlation between studying natural sciences, as opposed to the humanities, and interest in undergoing testing. Male respondents were more interested in testing compared to females. There was a strong interest in genetic research participation and notably limited privacy concerns. CONCLUSION: Although 59% of the respondents were interested in DTC genomic testing, they were not likely to be affected by them or act upon them. This raises questions about concerns relating to potential risks of DTC genomics users and users' understanding of genetic information including their awareness of privacy risks. Furthermore, the strong interest in genetic research participation signals an underexplored personal utility of genomic testing which needs to be both better understood and better harnessed.