2022 Association of Professors of Human and Medical Genetics (APHMG) consensus–based update of the core competencies for undergraduate medical education in genetics and genomics

PurposeThe field of genetics and genomics continues to expand at an unprecedented pace. As scientific knowledge is translated to clinical practice, genomic information is routinely being used in preventive, diagnostic, and therapeutic decision-making across a variety of clinical practice areas. As adoption of genomic medicine further evolves, health professionals will be required to stay abreast of new genetic discoveries and technologies and implementation of these advances within their scope of practice will be indicated.MethodsThe Association of Professors of Human and Medical Genetics previously developed medical school genetics core competencies, last updated in 2013. The competencies were reviewed and updated through a structured approach incorporating a modified Delphi method.ResultsThe updated Association of Professors of Human and Medical Genetics core competencies are presented. Current revisions include competencies that are concise, specific, and assessable. In addition, they incorporate recent advances in clinical practice and promote equity and inclusion in clinical care.ConclusionThe 2022 competencies will serve as a guide for medical school leadership and educators involved in curriculum development, implementation, and assessment. Use of these competencies across the undergraduate medical curricula will foster knowledge, skills, and behaviors required in medical practice across a wide range of specialties.     

Public Health Genomics knowledge and attitudes: A survey of public health educators in the United States

PurposeThis study assessed U.S. public health educators' attitudes toward genomic competencies, their awareness of efforts in the health promotion field to promote/incorporate genomics, and their basic & applied genomic knowledge.MethodsA total of 1607 public health educators, nationwide, responded to a web-based survey.ResultsThe sample comprised predominantly white (76.8%) female (83.9%) participants, with an average age of 40.1 years and 11.2 years of practice in public health education/promotion. Generally, participants had negative attitudes toward genomic competencies, low awareness, and deficient genomic knowledge. Although various socioeconomic characteristics (e.g., ethnicity, gender, and educational level) correlated with participants' attitudes, awareness, and genomic knowledge, training in genetics/genomics or public health genomics also exhibited a positive association. After we controlled for socioeconomic factors, awareness, training, and genomic knowledge remained significantly associated with respondents' attitudes toward genomic competencies.ConclusionAlthough this sample of public health educators had unfavorable attitudes and limited genomic knowledge, training seems to affect these variables. Thus, relevant training for this group of health professionals should be developed and advocated. Continuing education tools, focusing on public health genomics content, might be a venue for delivery of information and the development of favorable professional attitudes.     

A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice

PurposeEvaluation of genomic tests is often challenging because of the lack of direct evidence of clinical benefit compared with usual care and unclear evidence requirements. To address these issues, this study presents a risk-benefit framework for assessing the health-related utility of genomic tests.MethodsWe incorporated approaches from a variety of established fields including decision science, outcomes research, and health technology assessment to develop the framework. Additionally, we considered genomic test stakeholder perspectives and case studies.ResultsWe developed a three-tiered framework: first, we use decision-analytic modeling techniques to synthesize data, project incidence of clinical events, and assess uncertainty. Second, we defined the health-related utility of genomic tests as improvement in health outcomes as measured by clinical event rates, life expectancy, and quality-adjusted life-years. Finally, we displayed results using a risk-benefit policy matrix to facilitate the interpretation and implementation of findings from these analyses.Conclusion: A formal risk-benefit framework may accelerate the utilization and practice-based evidence development of genomic tests that pose low risk and offer plausible clinical benefit, while discouraging premature use of tests that provide little benefit or pose significant health risks compared with usual care.     

Knowledge and understanding of pharmacogenomic testing among patients and health care professionals: A scoping review

ObjectiveTo support the introduction of pharmacogenomic tests in current practice, this study identifies the factors associated with a better understanding of the information related to genetic, genomic and/or pharmacogenomic tests by patients and health care professionals.MethodsFollowing a scoping review methodology, a search for literature was conducted with keywords related to health literacy and knowledge translation in the context of pharmacogenomic tests. Since only 6 articles were identified, the context of genetic or genomic testing were added to the inclusion criteria, leading to 24 articles.ResultsFourteen of the studies analyzed focused on genetic predictive, diagnostic or carrier tests, or concerned genetics in general, while ten addressed or included the use of pharmacogenomic tests. Demographic, individual, experiential and contextual factors were associated with a better understanding of the information related to genetic, genomic and/or pharmacogenomic tests among the targeted populations.Research implicationsOur review shows that there is currently little empirical research available to identify the factors to consider in order to develop educational tools and resources specific to pharmacogenomics.ConclusionExpanding our review to include genetic and genomic testing factors can serve as a starting point for the evidence to be validated in future empirical research.     

Genetics/genomics education for nongenetic health professionals: a systematic literature review

PurposeThe completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals.MethodsFive electronic databases were searched from January 1990 to June 2016.ResultsForty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants’ improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants’ age, ethnicity, years of clinical practice, data validity, and data reliability.ConclusionMany genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016     

Patients’ challenges,competencies, and perceived support in dealing with information needs – A qualitative analysis in patients with breast and gynecological cancer

ObjectivesThis study aimed to investigate challenges, competencies, and support in breast and gynecological cancer patients when dealing with information needs and how health literacy as an interplay of these factors might be improved.MethodsSemi-structured interviews were conducted with patients in acute care (n = 19), undergoing rehabilitation (n = 20) or attending self-help groups (n = 16). Interviews were analyzed using content analysis.ResultsChallenges: gain information according to own needs, internet as information source, information evaluation and decisions, doctor-patient communication, situationally limited information processing, difficult access to information. Competencies: self-regulation of information needs, media and social competencies, communication skills in the doctor-patient conversation, internet competencies, self-directed decisions according to own needs, interest/self-efficacy, previous knowledge, trust in the doctor. Support: by professionals (e.g., patient-centered communication), relatives (e.g., support during consultations), peers (e.g., exchange), facilities (e.g., clinics).ConclusionsOur findings provide insight into challenges and competencies relevant to patients’ health literacy and the influence of support. The individuality of the interplay highlights the relevance of an active patient role and patient-centered care.Practice implicationsPatients’ health literacy should be improved in (psycho)oncological work by both reducing challenges (e.g., by communication skills training, involving relatives) and promoting competencies (e.g., by needs- and competence-oriented information offers).     

Engaging patients and families in communication across transitions of care: An integrative review

ObjectiveTo determine the current evidence about patient and family engagement in communication with health professionals during transitions of care to, within and from acute care settings.MethodsAn integrative review using seven international databases was conducted for 2003–2017. Forty eligible studies were analysed and synthesised using framework synthesis.ResultsFour themes: 1) Partnering in care: patients and families should be partners in decision-making and care; 2) Augmenting communication during transitions: intrinsic and extrinsic factors supported transition communication between patients, families and health professionals; 3) Impeding information exchange: the difficulties faced by patients and families taking an active role in transition; and 4) Outcomes of communication during transitions: reported experiences for patients, families and health professionals.ConclusionWhile attitudes towards engaging patients and family in transition communication in acute settings are generally positive, current practices are variable. Structural supports for practice are not always present.Practice implicationsOrganisational strategies to improve communication must incorporate an understanding of patient needs. A structured approach which considers timing, privacy, location and appropriateness for patients and families is needed. Communication training is required for patients, families and health professionals. Health professionals must respect a patient’s right to be informed by regularly communicating.     

The impact of clinical leadership on health information technology adoption: Systematic review

PurposeTo conduct a systematic review to examine evidence of associations between clinical leadership and successful information technology (IT) adoption in healthcare organisations.MethodsWe searched Medline, Embase, Cinahl, and Business Source Premier for articles published between January 2000 to May 2013 with keywords and subject terms related to: (1) the setting – healthcare provider organisations; (2) the technology – health information technology; (3) the process – adoption; and (4) the intervention – leadership. We identified 3121 unique citations, of which 32 met our criteria and were included in the review. Data extracted from the included studies were assessed in light of two frameworks: Bassellier et al.’s IT competence framework; and Avgar et al.’s health IT adoption framework.ResultsThe results demonstrate important associations between the attributes of clinical leaders and IT adoption. Clinical leaders who have technical informatics skills and prior experience with IT project management are likely to develop a vision that comprises a long-term commitment to the use of IT. Leaders who possess such a vision believe in the value of IT, are motivated to adopt it, and can maintain confidence and stability through the adversities that IT adoptions often entail. This leads to proactive leadership behaviours and partnerships with IT professionals that are associated with successful organisational and clinical outcomes.ConclusionsThis review provides evidence that clinical leaders can positively contribute to successful IT adoption in healthcare organisations. Clinical leaders who aim for improvements in the processes and quality of care should cultivate the necessary IT competencies, establish mutual partnerships with IT professionals, and execute proactive IT behaviours to achieve successful IT adoption.     

Co-design to increase implementation of insomnia guidelines in primary care

BackgroundSleep disorders, including insomnia, are widespread problems, which have increased during the COVID-19 pandemic. Guidelines for the treatment of insomnia prioritize non-pharmacological interventions. Nevertheless, primary care professionals lack well-developed material for patient education, that could help implement the treatment guidelines in Flanders, Belgium.ObjectiveThis project’s purpose is to develop complementary, written educational material, grounded in the principles of evidence-based practice, for primary care.Patient InvolvementThis co-design project involved patients and health professionals. Special attention was given to including patients with low health literacy, and empowering patients when designing in mixed groups.MethodsBased on the framework of Sanders and Stappers (2014), data were collected and analyzed in four phases. Pre-design, needs were explored using think-aloud studies and focus groups. Next, for generative purposes, the design studio method was used. Then, evaluation of the prototype happened with another series of think-aloud studies. Finally, post-design, implementation of the product was evaluated with a short survey.ResultsTwenty-five participants (10 patients and 15 healthcare professionals) contributed to the development of an educational patient leaflet called Sssssst. How do you sleep (at night)? Out of 30 professionals who received the printed leaflet for use in practice, 17 provided feedback after six months. Generally, the leaflet was well received. Visual design aspects stimulated use in practice.DiscussionWritten and visual materials aid primary care professionals to educate patients on sleep and insomnia. This supporting tool also stimulates self-management in patients. Although inspiring and educational for all stakeholders, a co-design approach is no guarantee for the product to “fit all”.     

Involving patients in undergraduate health professions education: What’s in it for them?

ObjectivesPatients have become more involved in research, policy, and health professions education. They are involved in teaching students competencies required for person-centred care, but patient benefits have not received proper attention. This exploratory study identifies how patient involvement in health professions education help patients to practice self-management and shared decision-making.MethodsIndividual interviews were conducted with patients (hereafter ‘experts by experience’) (N = 11) who participated in the Patient As a Person Module, organised for students of health professions in The Netherlands. Additionally, one of their healthcare professionals (N = 10) and family members (N = 9) were interviewed. Directed content analysis was used.ResultsParticipants reported that sharing lived experiences helped experts by experience to reflect on their preferences regarding health and healthcare, accept their changed selves, and obtain a renewed sense of purpose. They reported gaining insight into the perspectives of healthcare professionals, which yielded more equal healthcare professional-patient relationships.ConclusionsSharing their lived experiences with health and health care with students could help patients in practising effective self-management and participate in shared decision-making.Practice implicationsApproaching patient involvement in health professions education from both the perspectives of students and experts by experience, as opposed to students alone, optimises its societal impact.     

Barriers and facilitators for an effective palliative care communication with older people: A systematic review

ObjectivesThe present mixed-method systematic review identifies facilitators and barriers in palliative care communication among health professionals and older people.MethodsThe review process was conducted by three reviewers who searched studies in four different databases (January 2009-January 2022), exploring experiences of communication among health professionals and older people without cognitive impairments. Relevant articles were quality assessed with a standardized tool.ResultsTwenty-eight articles were included and the following 5 clusters were identified: 1) training and education for health professionals, 2) team working and coordination among health professionals, 3) communication skills, 4) time and availability, 5) emotional, cultural and psychological factors. The articles highlighted the need for greater preparation of health professionals around the management of palliative care communication with older people.ConclusionPalliative care communication among health professionals and older people are characterized by several challenges. However, there are facilitating aspects that may be considered to improve the quality of communication.Practice implicationsFacilitators are promising approaches to support health professionals in providing high-quality palliative care communication to older people, developing a person-centred practice. Facilitators include palliative care training and educational opportunities for health professionals, like ELNEC Geriatric Curriculum, permitting them to develop specific competences in communication and aging.     

Development of a conceptual framework to improve sexual wellbeing communication in routine prostate cancer care

ObjectiveTo systematically develop a framework to improve sexual wellbeing communication in routine prostate cancer care.MethodsThe Theoretical Domains Framework was used to guide a multi-phase process used to identify components of the framework based on evidence reviews, semi-structured interviews and stakeholder workshops. ‘Think-aloud’ testing was used to explore usability, potential barriers and other factors relevant to implementation.ResultsA conceptual communication framework consisting of ‘Engagement’ (E), ‘Assessment’ (A), information and ‘Support’ (S) and ‘Sign-posting’ (Si) sections was developed. The framework emphasises routine engagement to normalise sexual concerns, brief, non-sensitive assessment, personalised advice based on treatment type and relationship status, and a mechanism for referral to additional support or self-management resources in the form of a patient and partner handout. Usability testing identified strategies to promote implementation.ConclusionsThe proposed framework is appropriate for use in routine practice and appears to be acceptable to patients, partners and healthcare professionals. Its use may help address gaps in sexual wellbeing support for men and partners living with prostate cancer. Further work will be conducted evaluating an online engagement tool, modelled on the framework.Practice ImplicationsThe EASSi framework can facilitate and structure sexual wellbeing conversations and ensure fundamental but individualised support is provided routinely in prostate cancer care.     

“It’s something I’ve committed to longer term”: The impact of an immersion program for physicians on adoption of genomic medicine

ObjectiveTo foster implementation of genomic testing in medical care by providing a cadre of physicians with ‘hands on’ experience in genomics, positioning them as opinion leaders in their medical speciality. This paper presents qualitative evaluation of immediate outcomes, in particular its impact on peer interactions.MethodsProgram design and delivery was informed by implementation science, behavior change and experiential learning theories.Inductive content analysis of transcribed audio-recordings from semi-structured post-project interviews with all participants (n = 12) was conducted.ResultsParticipants reported the immersion experience improved their genomic capability, established them as credible genomic experts within their speciality and altered their practice in genomic medicine. Participants reported strengthening and widening of peer-to-peer and interdisciplinary communication, with both passive diffusion and active dissemination of information to peers. Some also became a resource for genetic professionals.ConclusionsGenomic immersion participants described elements which support sustained integration of an innovation, including immediate changes (e.g. use of genomic tests) and wider impacts (e.g. professional networks).Practice implicationsThis study supports a role for immersion as a successful strategy for enhancing engagement of non-geneticist physicians in genomics. Additional study is needed to understand how immersion experiences change the delivery of genomic services at the provider, practice and health system level.     

The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing

PurposeClinical genetics services are time- and labor-intensive. With increasing pressure for cost-effective medical care, the means of providing medical genetics services need to be evaluated in the current era of new genomic technologies.MethodsAn anonymous online survey regarding activities linked to medical genetics practice was administered to an international cohort of professionals.ResultsAmong 151 responses, the reported average time required for pediatric, oncogenetic, pregnancy with a malformed fetus, and preamniocentesis counseling sessions was 48, 37, 40, and 18 min, respectively. The time required to prepare a summary letter followed a similar pattern. Professionals with less experience needed more time for specific activities. The time required for the total workup of a pediatric patient ranged from 1 h and 48 min to 4 h, most of which was associated with indirect activities. Professionals performing one type of consultation (74% pediatric geneticists) perform fewer consultations per week. Respondents’ narrative comments reflected the complexity of the work and challenges faced.ConclusionClinical genetics is a time-consuming profession with increased demands related to advanced genetic and genomic testing. Further consideration is required to determine how to adapt these changes to the demands of cost-effectiveness without compromising the quality of patient care.     

Patient safety initiatives in Brazil: a nursing perspective

The science development and technology application improvement in all areas of knowledge, including health care, represent an advance in patient care. The health care providers face challenges to accomplish complex procedures and treatments, which demand infrastructure, defined framework, constant process establishment and redesign of nursing care, based on a continuous outcomes evaluation. Therefore, this development requires nurses with advanced knowledge and skills. As the main health care provider in Brazilian hospitals, the nursing staff perform and control the majority of direct patient care procedures, and as such, nursing professionals can be responsible for triggering adverse events that can compromise patient safety. Research conducted in Brazil showed that the quality of health care delivery system and the results of care have significant variation nationwide. Health care professionals should be valued as the one who can promote patient safety, providing high quality care within cost-effective services. Technology is a key element to support and enhance the professional's performance. However, it is also important to promote and facilitate its implementation and development to retain a creative, engaged, skilled, satisfied, competent, and accountable professional capable of identifying and using technology resources in order to assure the quality of care for the population.     

Dimensions,application, and outcomes of person-centered self-management interventions for those living with type 2 diabetes: A scoping review

ObjectivesTo explore which dimensions of the person-centered approach (PCA) are adopted in self-management interventions, how they are applied, and its outcomes.MethodsA review team carried out a scoping review using the methodology of Arksey and O’Malley on diabetes mellitus type 2, person-centered care, and self-management.ResultsOf the 364 titles identified, 22 articles were included in this review. No study contained all five dimensions described by the person-centered framework. Some dimensions seemed difficult to assess, mainly having a sympathetic presence and engagement. The application of the five PCA dimensions are presented. Although the authors claimed their intervention to be person-centered, none used a specific tool to measure person-centered care in a holistic way.ConclusionAlthough the guidelines recommend a PCA to professionals, there is a gap with practice, professionals having difficulty adopting and measuring this approach.Practice implicationsSome strategies to facilitate the adoption of a PCA with people living with type 2 diabetes are proposed. These can help researchers and clinicians develop a PCA, by identifying the care delivery processes necessary to provide it. It seems important for researchers to measure whether their intervention is truly person-centered, using holistic tools and combining different methods (observation, questionnaire, interview).     

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

PurposeGenetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice. The purpose of the study was to evaluate these resources using Kirkpatrick’s framework for educational outcomes.MethodsMixed methods (qualitative and quantitative) were used over four phases of the study.ResultsA high level of satisfaction with the resources was reported. Knowledge and skills improved significantly after using the education material. Participants reported changes in confidence and practice behavior, including family history taking, seeking advice from specialists and referring patients. The resources helped users to learn how to explain genetics. Many visited the resources repeatedly and some used them to educate colleagues or students.ConclusionGen-Equip modules are effective in improving genetic knowledge, skills, and attitudes for primary care professionals. They provide both continuing professional development and just-in-time learning for a potentially large global audience at a practical level.     

Effectiveness of a Web-based genomics training for health educators in Texas

PurposeWith advanced genomic developments, better prevention strategies are available via personalized genomic services. Because there is a shortage of genetic professionals, and primary-care providers are overwhelmed with routine practice, involving health educators—whose expertise includes educating the general public and promoting healthy behavior—to provide basic genomics education may facilitate better services. We developed the first evidence- and theory-based family health history Web-based training for Texas health educators. This report presents its evaluation results.MethodsApproximately one-third of Texas health educators holding (Master) Certified Health Education Specialist designation (~40% were racial/ethnic minorities) participated in the family health history Web-based training. Attitudes, self-efficacy, intention, knowledge, and practice were assessed at baseline, immediately after training, and 3 months posttraining. Qualitative data were collected to provide additional evaluation findings.Resultsarticipants significantly improved their attitudes, knowledge, intention, and self-efficacy regarding family health history education, immediately posttraining and after 3 months. The number of participants practicing family health history was significantly increased. Participants’ overall assessment of the program was positive.ConclusionThis family health history Web-based training successfully increased the number of genomically competent and culturally diverse Texas health educators. Ongoing efforts are needed to sustain and expand this education as well as to disseminate it to all health educators in the United States.Genet Med 2014:16(3):271–278     

A conceptual framework for understanding iatrophobia

ObjectiveIatrophobia – fear of doctors, medical care, or the medical care system – is common among patients and can negatively impact their health-seeking behaviors and relationships with health care professionals. Despite this, academic literature on iatrophobia often fails to explore its nuanced causes.MethodsWe establish a conceptual framework of iatrophobia, categorizing sources of fear that may create barriers to accessing medical care, and recommend a research agenda to address this phenomenon and understand its role in medical care.ResultsThe framework includes three categories of determinants of iatrophobia: patient fear of illness and the medical exam, patient fear of physician reaction, and patient fear related to barriers to care. These categories represent influences from individual to more system-related factors associated with the physician-patient relationship. Research examining iatrophobia should focus on understanding its prevalence, how patients cope with their fear, discussing iatrophobia in the physician-patient encounter, the sociopolitical contribution to iatrophobia, and how iatrophobia can be reduced.ConclusionsIatrophobia can be categorized into three primary domains, but it remains poorly understood.Practice ImplicationsA more thorough understanding of iatrophobia will help to contextualize its role amid other barriers to care and patient health outcomes.     

Toward a Mixed-Methods Research Approach to Content Analysis in The Digital Age: The Combined Content-Analysis Model and its Applications to Health Care Twitter Feeds

BackgroundTwitter’s 140-character microblog posts are increasingly used to access information and facilitate discussions among health care professionals and between patients with chronic conditions and their caregivers. Recently, efforts have emerged to investigate the content of health care-related posts on Twitter. This marks a new area for researchers to investigate and apply content analysis (CA). In current infodemiology, infoveillance and digital disease detection research initiatives, quantitative and qualitative Twitter data are often combined, and there are no clear guidelines for researchers to follow when collecting and evaluating Twitter-driven content.ObjectiveThe aim of this study was to identify studies on health care and social media that used Twitter feeds as a primary data source and CA as an analysis technique. We evaluated the resulting 18 studies based on a narrative review of previous methodological studies and textbooks to determine the criteria and main features of quantitative and qualitative CA. We then used the key features of CA and mixed-methods research designs to propose the combined content-analysis (CCA) model as a solid research framework for designing, conducting, and evaluating investigations of Twitter-driven content.MethodsWe conducted a PubMed search to collect studies published between 2010 and 2014 that used CA to analyze health care-related tweets. The PubMed search and reference list checks of selected papers identified 21 papers. We excluded 3 papers and further analyzed 18.ResultsResults suggest that the methods used in these studies were not purely quantitative or qualitative, and the mixed-methods design was not explicitly chosen for data collection and analysis. A solid research framework is needed for researchers who intend to analyze Twitter data through the use of CA.ConclusionsWe propose the CCA model as a useful framework that provides a straightforward approach to guide Twitter-driven studies and that adds rigor to health care social media investigations. We provide suggestions for the use of the CCA model in elder care-related contexts.