Women's Knowledge of Genomic Testing and Precision Medicine in Breast Cancer Treatment Decision-Making.

PURPOSE: To understand awareness of genetic and genomic testing, as well as decision-making, in women diagnosed with breast cancer. PARTICIPANTS & SETTING: 29 African American/Black and Latina/Hispanic women diagnosed with breast cancer. METHODOLOGIC APPROACH: A semistructured interview guide was used in focus groups conducted via videoconference. Transcripts were analyzed using thematic analysis. FINDINGS: Many of the women understood the concept of genetic testing to identify the BRCA1/BRCA2 variant, but none of them were aware of genomic testing and its implications for personalized medicine. Participants discussed provider and patient roles in treatment decision-making, identifying roles that the physician might play in treatment planning, from primary decision-maker to collaborator. IMPLICATIONS FOR NURSING: As the number of precision cancer treatments expands, patients must be able to comprehend the information provided to make informed decisions about their treatment. Providers should do a better job of explaining potential treatments so that patients feel they are part of the decision-making process. Addressing gaps in treatment access and uptake requires providers to prioritize patient engagement and understanding.

Effects of Individualized Nursing Based on Zero-Defect Theory on Perioperative Patients Undergoing Laparoscopic Cholecystectomy.

Objective: This study is aimed at analyzing the effects of individualized nursing based on the zero-defect theory on perioperative patients undergoing laparoscopic cholecystectomy. Methods: 174 patients who underwent laparoscopic cholecystectomy from 1st November 2019 to 30th November 2020 were enrolled as the research subjects and randomly divided into control and observation groups. The patients in the control group received conventional perioperative nursing care, and the patients in the observation group were treated with individualized nursing based on the zero-defect theory. Results: The heart rate, diastolic blood pressure, and systolic blood pressure level of patients in two groups after nursing decreased significantly, and the reduction in the observation group was more significant than that in the control group. The depression and anxiety scores of the two groups after nursing were decreased, and the decrease in the observation group was significantly greater than that in the control group. The time to first postoperative exhaust, return to normal intake, out-of-bed activity, and hospital stay in the observation group was less than that in the control group. The incidence of postoperative complications in the observation group was substantially lower than that in the control group. The satisfaction degree of nursing care in the observation group was significantly higher than that in the control group. Conclusion: Individualized nursing care based on zero-defect theory can effectively reduce the perioperative psychological stress response of patients with laparoscopic cholecystectomy. It helps to improve the negative emotions of depression and anxiety, promotes the recovery of disease, reduces postoperative complications, and improves nursing satisfaction, which is worthy of clinical promotion.

Behavioural Challenges Associated With Risk-Adapted Cancer Screening.

Cancer screening programmes have a major role in reducing cancer incidence and mortality. Traditional internationally-adopted protocols have been to invite all 'eligible individuals' for the same test at the same frequency. However, as highlighted in Cancer Research UK's 2020 strategic vision, there are opportunities to increase effectiveness and cost-effectiveness, and reduce harms of screening programmes, by making recommendations on the basis of personalised estimates of risk. In some respects, this extends current approaches of providing more intensive levels of care outside screening programmes to individuals at very high risk due to their family history or underlying conditions. However, risk-adapted colorectal cancer screening raises a wide range of questions, not only about how best to change existing programmes but also about the psychological and behavioural effects that these changes might have. Previous studies in other settings provide some important information but remain to be tested and explored further in the context of colorectal screening. Conducting behavioural science research in parallel to clinical research will ensure that risk-adapted screening is understood and accepted by the population that it aims to serve.

Personalizing cholesterol treatment recommendations for primary cardiovascular disease prevention.

Statin therapy is the cornerstone of preventing atherosclerotic cardiovascular disease (ASCVD), primarily by reducing low density lipoprotein cholesterol (LDL-C) levels. Optimal statin therapy decisions rely on shared decision making and may be uncertain for a given patient. In areas of clinical uncertainty, personalized approaches based on real-world data may help inform treatment decisions. We sought to develop a personalized statin recommendation approach for primary ASCVD prevention based on historical real-world outcomes in similar patients. Our retrospective cohort included adults from a large Northern California electronic health record (EHR) aged 40-79 years with no prior cardiovascular disease or statin use. The cohort was split into training and test sets. Weighted-K-nearest-neighbor (wKNN) regression models were used to identify historical EHR patients similar to a candidate patient. We modeled four statin decisions for each patient: none, low-intensity, moderate-intensity, and high-intensity. For each candidate patient, the algorithm recommended the statin decision that was associated with the greatest percentage reduction in LDL-C after 1 year in similar patients. The overall cohort consisted of 50,576 patients (age 54.6 ± 9.8 years) with 55% female, 48% non-Hispanic White, 32% Asian, and 7.4% Hispanic patients. Among 8383 test-set patients, 52%, 44%, and 4% were recommended high-, moderate-, and low-intensity statins, respectively, for a maximum predicted average 1-yr LDL-C reduction of 16.9%, 20.4%, and 14.9%, in each group, respectively. Overall, using aggregate EHR data, a personalized statin recommendation approach identified the statin intensity associated with the greatest LDL-C reduction in historical patients similar to a candidate patient. Recommendations included low- or moderate-intensity statins for maximum LDL-C lowering in nearly half the test set, which is discordant with their expected guideline-based efficacy. A data-driven personalized statin recommendation approach may inform shared decision making in areas of uncertainty, and highlight unexpected efficacy-effectiveness gaps.

Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program.

The success of the Saudi Human Genome Program (SHGP), one of the top ten genomic programs worldwide, is highly dependent on the Saudi population embracing the concept of participating in genetic testing. However, genetic data sharing and artificial intelligence (AI) in genomics are critical public issues in medical care and scientific research. The present study was aimed to examine the awareness, knowledge, and attitude of the Saudi society towards the SHGP, the sharing and privacy of genetic data resulting from the SHGP, and the role of AI in genetic data analysis and regulations. Results of a questionnaire survey with 804 respondents revealed moderate awareness and attitude towards the SHGP and minimal knowledge regarding its benefits and applications. Respondents demonstrated a low level of knowledge regarding the privacy of genetic data. A generally positive attitude was found towards the outcomes of the SHGP and genetic data sharing for medical and scientific research. The highest level of knowledge was detected regarding AI use in genetic data analysis and privacy regulation. We recommend that the SHGP's regulators launch awareness campaigns and educational programs to increase and improve public awareness and knowledge regarding the SHGP's benefits and applications. Furthermore, we propose a strategy for genetic data sharing which will facilitate genetic data sharing between institutions and advance Personalized Medicine in genetic diseases' diagnosis and treatment.

Evaluation of the impact of the COVID-19 lockdown on the quality of life of patients monitored for cancer who practice an adapted physical activity: rugby for health.

PURPOSE: The benefits of regular physical exercise on the tolerability of cancer treatments, quality of life and survival rates post-diagnosis have been demonstrated but all supervised physical activities have been interrupted due to the global health crisis and the need for lockdown to halt the spread of SARS-CoV-2. To reintroduce activities post-lockdown, we wanted to assess the impact of the COVID-19 lockdown on the quality of life and the psychological status of patients who practice an adapted physical activity such as rugby for health. METHODS: The evaluation was conducted in two phases: an initial self-questionnaire comprised of 42 questions sent to all participants to assess the impact of lockdown and a second assessment phase in the presence of the participants. We assessed anthropometric data, functional fitness parameters, quality of life and the psychosocial status of the subjects. The data were compared to pre-lockdown data as part of a standardised follow-up procedure for patients enrolled in the programme. RESULTS: 105/120 (87.5%) individuals responded to the rapid post-lockdown survey analysis. In 20% of the cases, the patients reported anxiety, pain, a decline in fitness and a significant impact on the tolerability of cancer treatments. Twenty-seven patients agreed to participate in the individual analysis. Following lockdown, there was a significant decrease in the intensity of physical activity (p = 8.223e-05). No post-lockdown changes were noted in the assessments that focus on the quality of life and the level of psychological distress. Conversely, there was a significant correlation between the total of high energy expended during lockdown and the quality of life (p = 0.03; rho = 0.2248) and the level of psychological distress post-lockdown (p = 0.05; rho = - 0.3772). CONCLUSION: Lockdown and reduced physical activity, particularly leisure activities, did not impact the overall health of the patients. However, there was a significant correlation with the level of physical activity since the higher the level of physical activity, the better the quality of life and the lower the level of psychological distress.

Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong.

BACKGROUND: The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyzing the emergence of genetic testing (GT) with relevant ethical, legal, and social implications (ELSI). RESULTS: The perception of university undergraduates with regards to PM and PGx was investigated, and 80% of undergraduates valued PM as a promising healthcare model with 66% indicating awareness of personal genome testing companies. When asked about the curriculum design towards PM and PGx, compared to undergraduates in non-medically related curriculum, those studying in medically related curriculum had an adjusted 7.2 odds of perceiving that their curriculum was well-designed for learning PGx (95% CI 3.6-14.6) and a 3.7 odds of perceiving that PGx was important in their study (95% CI 2.0-6.8). Despite this, only 16% of medically related curriculum undergraduates would consider embarking on future education on PM. When asked about their perceptions on GT, 60% rated their genetic knowledge as "School Biology" level or below while 76% would consider undergoing a genetic test. As for ELSI, 75% of undergraduates perceived that they were aware of ethical issues of GT in general, particularly on "Patient Privacy" (80%) and "Data Confidentiality" (68%). Undergraduates were also asked about their perceived reaction upon receiving an unfavorable result from GT, and over half of the participants perceived that they would feel "helpless or pessimistic" (56%), "inadequate or different" (59%), and "disadvantaged at job seeking" (59%), while older undergraduates had an adjusted 2.0 odds of holding the latter opinion (95% CI 1.1-3.5), compared to younger undergraduates. CONCLUSION: Hong Kong undergraduates showed a high awareness of PM but insufficient genetic knowledge and low interest in pursuing a career towards PM. They were generally aware of ethical issues of GT and especially concerned about patient privacy and data confidentiality. There was a predominance of pessimistic views towards unfavorable testing results. This study calls for the attention to evaluate education and talent development on genomics, and update existing legal frameworks on genetic testing in Hong Kong.

When physical activity meets the physical environment: precision health insights from the intersection.

BACKGROUND: The physical environment can facilitate or hinder physical activity. A challenge in promoting physical activity is ensuring that the physical environment is supportive and that these supports are appropriately tailored to the individual or group in question. Ideally, aspects of the environment that impact physical activity would be enhanced, but environmental changes take time, and identifying ways to provide more precision to physical activity recommendations might be helpful for specific individuals or groups. Therefore, moving beyond a "one size fits all" to a precision-based approach is critical. MAIN BODY: To this end, we considered 4 critical aspects of the physical environment that influence physical activity (walkability, green space, traffic-related air pollution, and heat) and how these aspects could enhance our ability to precisely guide physical activity. Strategies to increase physical activity could include optimizing design of the built environment or mitigating of some of the environmental impediments to activity through personalized or population-wide interventions. CONCLUSIONS: Although at present non-personalized approaches may be more widespread than those tailored to one person's physical environment, targeting intrinsic personal elements (e.g., medical conditions, sex, age, socioeconomic status) has interesting potential to enhance the likelihood and ability of individuals to participate in physical activity.

The patient perspective in the era of personalized medicine: What about scanxiety?

Frequency of scanning has accelerated in the era of personalized medicine and is related, but not restricted, to the exploding number of clinical trials for new cancer treatments. Particularly in drug trials, but also in clinical practice, patients are followed up by scans frequently, which may vary from every 6 to 12 weeks until progression. The authors aimed to raise awareness for this underreported but widely present "Sword of Damocles" scan-related issue also referred to as 'scanxiety.'

Confidence vanished or impaired until distrust in the doctor-patient relationship because of COVID-19: Confidence vanished or impaired until distrust: "COVID" in relationship.

Since Hippocrates, the cornerstone of medical practice has been the doctor-patient relationship. The question here is whether these basic principles are still compatible with this unusual COVID-period. This pandemic represents a serious threat to human health, leading to profound changes in behavior in daily life but also in health care. Because of limited resources, health-managers must choose well-balanced solutions able to protect patients and citizens on the one hand and to provide maximal benefit for the society on the other hand. We are going through a moment of rupture that we must acknowledge. Here, we discussed how the doctor-patient relationship could be compromised. Doctors are focused on cares whereas patients are focused on scare. Profound changes occur presently, from the way we present ourselves to each other (including the masks), the poor conditions for physical examination, the mental suffering of both patient and caregiver until sometimes terrible end-of-life conditions. The historical point-of-view helps us to keep in mind previous experiences, and the philosophical perspective helps to contextualize this unedited situation. We should stop briefly our daily rush to put these considerations into perspective to overcome these challenges. Nothing is as effective as trust: let's rebuild it.

Evaluation of a personally-tailored opioid overdose prevention education and naloxone distribution intervention to promote harm reduction and treatment readiness in individuals actively using illicit opioids.

BACKGROUND: Opioid overdose prevention education and naloxone distribution (OEND) programs include information on general risk factors, overdose recognition, and naloxone utilization. This study evaluated a personally-tailored OEND (PTOEND) intervention designed to promote harm reduction and treatment readiness for illicit opioid users by also including education about personal overdose-risk factors and medication for opioid use disorder (MOUD). METHOD: A secondary analysis of a randomized controlled trial testing a Peer recovery support service (PRSS) intervention, relative to Control, in adult illicit opioid users reporting treatment for an overdose in the prior 6 months. PTOEND, a 30-minute computer-guided intervention, was administered by a research assistant at the randomization visit to all participants (N = 80). Participants completed a telephone visit 3 weeks post-randomization (n = 74) to assess changes in opioid overdose/MOUD knowledge and treatment readiness. Participants completed in-person visits at 3 (n = 66), 6 (n = 58), and 12 (n = 44) months post-randomization to assess illicit opioid use and naloxone utilization (all time points) and overdose-risk behaviors (12 months). We conducted pre-post analyses of the impact of PTOEND controlling for the PRSS effect. RESULTS: PTOEND increased knowledge of overdose (79.8% to 81.5%, p < 0.05) and MOUD (66.9% to 75.0%, p < 0.01) and decreased perceived treatment barriers (2.1 to 1.9, p < 0.01); desire to quit all substances increased (7.2 to 7.8, p = 0.05). Self-reported opioid use was significantly decreased at each follow-up (all p < 0.01). Self-reported overdose-risk behaviors decreased significantly (6.2 to 2.4, p < 0.01). A majority of participants (65 %) reported naloxone utilization. CONCLUSIONS: PTOEND may be effective for promoting harm reduction and treatment readiness.

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.

Personalized medicine, digital technology and trust: a Kantian account.

Trust relations in the health services have changed from asymmetrical paternalism to symmetrical autonomy-based participation, according to a common account. The promises of personalized medicine emphasizing empowerment of the individual through active participation in managing her health, disease and well-being, is characteristic of symmetrical trust. In the influential Kantian account of autonomy, active participation in management of own health is not only an opportunity, but an obligation. Personalized medicine is made possible by the digitalization of medicine with an ensuing increased tailoring of diagnostics, treatment and prevention to the individual. The ideal is to increase wellness by minimizing the layer of interpretation and translation between relevant health information and the patient or user. Arguably, this opens for a new level of autonomy through increased participation in treatment and prevention, and by that, increased empowerment of the individual. However, the empirical realities reveal a more complicated landscape disturbed by information 'noise' and involving a number of complementary areas of expertise and technologies, hiding the source and logic of data interpretation. This has lead to calls for a return to a mild form of paternalism, allowing expertise coaching of patients and even withholding information, with patients escaping responsibility through blind or lazy trust. This is morally unacceptable, according to Kant's ideal of enlightenment, as we have a duty to take responsibility by trusting others reflexively, even as patients. Realizing the promises of personalized medicine requires a system of institutional controls of information and diagnostics, accessible for non-specialists, supported by medical expertise that can function as the accountable gate-keeper taking moral responsibility required for an active, reflexive trust.

Precision medicine in kidney disease: the patient's view.

Research in the field of nephrology continues to improve our understanding of the mechanisms that promote and drive kidney disease, including how human genetic variation might affect disease predisposition and progression. One of the goals of these research efforts is to inform and enable the implementation of precision medicine, whereby patient management is tailored to the individual according to the mechanisms underlying their disease to increase the chances of therapeutic success. To achieve this goal, we need a clearer understanding of the molecular pathways that underlie the many different causes of kidney failure. These research insights are being increasingly translated and implemented into clinical practice. In this Viewpoint, we asked three individuals who have been affected by kidney failure for their views on the importance of understanding the drivers of kidney disease and, on a personal level, what they hope might be achieved with this information.

Individualized Augmented Reality Training Reduces Phantom Pain and Cortical Reorganization in Amputees: A Proof of Concept Study.

Phantom limb pain (PLP) may be relieved using a visual representation of an intact limb. However, patients with distorted (telescoped) phantoms seem unable to associate with visualizations of intact limbs. A virtual arm visualization was matched to the individual's phantom perception and controlled in an augmented reality (AR) intervention. Seven PLP participants with telescoped phantoms performed 8 supervised home-based AR-training sessions (45 minutes each) within 2 weeks. The virtual arm was superimposed in AR onto their residual limb and controlled using electromyography from the residual limb. AR-training sessions included 3 AR tasks aimed at reengaging the neural circuits related to the lost limb. Agency (Rubber hand illusion questionnaire) and telescoping (proprioceptive drift and felt telescoping) were monitored after individual training sessions. fMRI during lip pursing was assessed before and after intervention. Pain rating index scores were reduced by 52% (mean change = -1.884, P = .032, d = 1.135). Numerical rating scale scores of PLP severity (0-6) in patients benefitting from the intervention were reduced by 41% (mean change = .93 P = .022, d = 1.334). The lip pursing task illustrated decreased cortical activity in the primary somatosensory cortex, which correlated to the reduced numerical rating scale scores of PLP severity. PERSPECTIVE: Two weeks of novel AR interventions in patients with telescoped phantoms demonstrated reduced PLP and reversal of cortical reorganization. This research highlights the potential of individualized AR interventions for PLP and indicate the importance of agency in this type of treatments.

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.

Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary.

We performed a large outcome study at group and individual level in which the goals of genetic counselling were operationalized into cognitive and affective outcomes: empowerment, perceived personal control and anxiety. We then examined which socio-demographic and clinical variables were associated with changes in these outcomes. Data came from 1479 counselees who completed questionnaires (GCOS-18, PPC and STAI) at three time points: before the start of genetic counselling, after the first consultation and after the results of genetic counselling were disclosed. Results showed that at group level empowerment, perceived personal control and anxiety improved significantly after the whole genetic counselling process. Effect-sizes were medium for empowerment and small for the other outcomes. At individual level, 48% of counselees improved in empowerment, 21% in perceived personal control and 17% in anxiety. Around 10% of counselees worsened on all outcomes. Only 'reason for referral' and 'genetic test result' were significantly associated with changes in outcomes. This study demonstrated improvements among counselees in cognitive and affective outcomes after genetic counselling at group level. However, our results also suggest that there are opportunities for improvement at individual level, as many counselees remained stable and some even worsened on all outcomes. Routine outcome monitoring could help to explore the needs of counselees and could help to identify counselees who worsen.

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.