Adults with CHD balancing motivations and concerns in pregnancy decision-making.

BACKGROUND: While the incidence of pregnancy has increased among individuals with adult CHD, little has been described about considerations and experiences of patients with adult CHD regarding pregnancy. OBJECTIVE: We aimed to explore patients' motivations, concerns, and decision-making processes regarding pregnancy. METHODS: In April 2019-January 2020, we conducted in-depth telephone interviews with patients (n = 25) with simple, moderate, or complex adult CHD, who received prenatal care at the University of Washington during 2010-2019 and experienced a live birth. Transcripts were analysed using thematic analysis. RESULTS: Participants described motivations for pregnancy as both internal desires (motherhood, marriage fulfillment, biological connection, fetal personhood, self-efficacy) and external drivers (family or community), as well as concerns for the health and survival of themselves and the fetus. Factors that enabled their decision to maintain a pregnancy included having a desire that outweighed their perceived risk, using available data to guide their decision, planning for contingencies and knowing their beliefs about termination, plus having a trusted healthcare team, social support, and resources. Factors that led to insurmountable risk in subsequent pregnancies included desire having been fulfilled by the first pregnancy, compounding risk with age and additional pregnancies, new responsibility to an existing child, and reduced healthcare team and social support. CONCLUSIONS: Understanding individuals' motivations and concerns, and how they weigh their decisions to become or remain pregnant, can help clinicians better support patients with adult CHD considering pregnancy. Clinician education on patient experiences is warranted.

Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.

Despite clinical guidelines, programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. We interviewed individuals (n = 13) instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. To characterize determinants of readiness to implement population-based cancer genetic service delivery models, interviews and deductive codes drew on Weiner's theory of organizational readiness for change. Qualitative analysis identified themes across programs. The degree to which organizational stakeholders valued moving to a population-based genetic service delivery model depended on the existence of aligned clinical guidelines at the time of program implementation. However, judgments of implementation capacity within the organization, particularly with respect to task demands and resource concerns, were more often barriers to readiness. Program champions were essential to facilitating readiness, frequently taking on substantial uncompensated work. These data suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.

Apolipoprotein L1 Testing in African Americans: Involving the Community in Policy Discussions.

BACKGROUND: Apolipoprotein A1 (APOL1) gene variants occurring in people of West African descent contribute to the greater burden of kidney disease among African Americans. These variants are associated with increased risk of nondiabetic nephropathy, more rapid progression of chronic kidney disease, and shorter survival of donor kidneys after transplantation. However, only a minority of people with APOL1-associated risk develops kidney disease and specific clinical measures to address APOL1-associated risk are lacking. Given these uncertainties, we sought to engage members of the African American public in discussions with other stakeholders about the appropriate use of APOL1 testing. METHODS: Formative interviews with community members, researchers, and clinicians in Seattle WA, Nashville TN, and Jackson MS, provided baseline information about views toward APOL1 testing and informed the design of 3 community-based deliberations among African Americans. A national meeting held in March 2018 included 13 community members, 7 scientific advisors and 26 additional researchers, clinicians, bioethicists, patient advocates, and representatives from professional organizations and federal funding agencies. Using small break-out and plenary discussion, the group agreed on recommendations based on current knowledge about APOL1-associated risk. RESULTS: Meeting outcomes included recommendations to develop educational materials about APOL1 for community members and clinicians; to offer APOL1 research results to participants; and on the use of APOL1testing in kidney transplant programs. The group recommended against the routine offer of APOL1 testing in clinical care. Areas of disagreement included whether kidney transplant programs should require APOL1 testing of prospective living donors or bar individuals with APOL1 risk from donating kidneys and whether testing should be available on request in routine clinical care. CONCLUSION: We recommend continued discussion among stakeholders and concerted efforts to ensure active and informed participation of members of the affected community to guide research on APOL1 and kidney disease.

Responsible Research With Urban American Indians and Alaska Natives.

American Indian and Alaska Native (AI/AN) communities harbor understandable mistrust of research. Outside researchers have historically controlled processes, promulgating conclusions and recommended policies with virtually no input from the communities studied. Reservation-based communities can apply sovereignty rights conferred by the federal government to change this research trajectory. Many tribes now require review and approval before allowing research activities to occur, in part through the development of regulatory codes and oversight measures. Tribal oversight ensures that research is directed toward questions of importance to the community and that results are returned in ways that optimize problem solving. Unfortunately, tribal governance protections do not always extend to AI/ANs residing in urban environments. Although they represent the majority of AI/ANs, urban Indians face an ongoing struggle for visibility and access to health care. It is against this backdrop that urban Indians suffer disproportionate health problems. Improved efforts to ensure responsible research with urban Indian populations requires attention to community engagement, research oversight, and capacity building. We consider strategies to offset these limitations and develop a foundation for responsible research with urban Indians.

Clinician-Stakeholders' Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results.

Test results for genetic conditions, such as Lynch Syndrome (LS), have traditionally been returned by genetic counselors or other providers who can explain results implications and provide psychosocial support. Returning genetic results through an Electronic Health Record's patient portal may increase the efficiency of returning results and could activate patient follow-up; however, stakeholder input is necessary to determine acceptability and appropriate implementation for LS. Twenty interviews were conducted with clinicians from six specialties involved in LS screening that represent a range of settings. Data were analyzed using directed content analysis and thematic analysis across content categories. Participants felt that patient portals could supplement personal calls, but the potential sensitive nature of LS screening results indicated the need for caution. Others felt that LS results could be returned through portals if there were clear explanations of the result, reputable additional information available within the portal, urging follow up confirmatory testing, and a referral to a genetics specialist. Patient portals were seen as helpful for prompting patient follow-up and providing resources to notify at-risk family members. There is potential for patient portals to return LS screening and other genetic results, however we raise several issues to resolve before implementation is warranted.

Identifying "ownership" through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome.

PurposeLynch syndrome cases are underidentified, and universal colorectal cancer tumor screening for Lynch syndrome (UTS) has been recommended. UTS implementation is challenging and few successful examples exist to date, and colorectal cancer patients and at-risk family members exhibit low uptake of genetic services. This study sought to identify the elements that could guide the choice of specialties to implement UTS through three main stages: initiating the screen, returning positive screen results, and providing follow-up.MethodsTo understand stakeholder views on the UTS process, 20 semistructured interviews were conducted with clinicians from six medical specialties crucial for implementing UTS. Data were analyzed using directed content analysis and additional thematic analysis across content categories.ResultsSeveral clinical specialties could fill necessary roles at each of the main stages of UTS implementation. Participants suggested owners based on attributes of specialty roles, clinical settings, and the routes patients take through the system.ConclusionUTS is considered possible in a range of health-care settings, with tailoring. Health systems need to choose who best fills the role's needs based on local resources and processes. These results offer implementation guidance based on role needs, not clinical specialty, in resolving the issue of UTS "ownership."

"Endless opportunities": A qualitative exploration of facilitators and barriers to scale-up of two-way texting follow-up after voluntary medical male circumcision in Zimbabwe.

In Zimbabwe, the ZAZIC consortium employs two-way, text-based (2wT) follow-up to strengthen post-operative care for voluntary medical male circumcision (VMMC). 2wT scaled nationally with evidence of client support and strengthened follow-up. However, 2wT uptake among healthcare providers remains suboptimal. Understanding the gap between mobile health (mHealth) potential for innovation expansion and scale-up realization is critical for 2wT and other mHealth innovations. Therefore, we conducted an exploratory qualitative study with the objective of identifying 2wT program strengths, challenges, and suggestions for scale up as part of routine VMMC services. A total of 16 in-depth interviews (IDIs) with diverse 2wT stakeholders were conducted, including nurses, monitoring & evaluation teams, and technology partners-a combination of perspectives that provide new insights. We used both inductive and deductive coding for thematic analysis. Among 2wT drivers of expansion success, interviewees noted: 2wT care benefits for clients; effective hands-on 2wT training; ease of app use for providers; 2wT saved time and money; and 2wT strengthened client/provider interaction. For 2wT scale-up challenges, staff shortages; network infrastructure constraints; client costs; duplication of paper and electronic reporting; and complexity of digital tools integration. To improve 2wT robustness, respondents suggested: more staff training to offset turnover; making 2wT free for clients; using 2wT to replace paper VMMC reporting; integrating with routine VMMC reporting systems; and expanding 2wT to other health areas. High stakeholder participation in app design, implementation strengthening, and evaluation were appreciated. Several 2wT improvements stemmed from this study, including enrollment of multiple people on one number to account for phone sharing; 2wT inclusion of minors ages 15+; clients provided with $1 to offset SMS costs; and reduced SMS messages to clients. Continued 2wT mentoring for staff, harmonization of 2wT with Ministry e-health data systems, and increased awareness of 2wT's client and provider benefits will help ensure successful 2wT scale-up.

Found in translation: Decoding local understandings of genetics and heredity in a Yup'ik Eskimo community.

The Center for Alaska Native Health Research is a community-based participatory research center that conducts studies involving genetic research with Yup'ik Eskimo community members in Southwest Alaska, where Yup'ik remains the first language for most residents. Cultural equivalents are needed to communicate results of these studies among all partners and members of the participating communities, since many scientific terms have no direct translation in Yup'ik. To inform that effort, we examined local understandings of genetics and heredity in one community. Here, we report results from back-translated Yup'ik interviews, and identify working genetic concepts shared by participants from interviews and focus groups. We suggest issues involved in, and some potential steps toward, developing a concise, scientifically accurate and culturally relevant term for "genetics" and other health concepts.

Stakeholder Perspectives on Returning Nonactionable Apolipoprotein L1 (APOL1) Genetic Results to African American Research Participants.

The ethics of returning nonactionable genetic research results to individuals are unclear. Apolipoprotein L1 (APOL1) genetic variants are nonactionable, predominantly found in people of West African ancestry, and contribute to kidney disease disparities. To inform ethical research practice, we interviewed researchers, clinicians, and African American community members (n = 76) about the potential risks and benefits of returning APOL1 research results. Stakeholders strongly supported returning APOL1 results. Benefits include reciprocity for participants, community education and rebuilding trust in research, and expectation of future actionability. Risks include analytic validity, misunderstanding, psychological burdens, stigma and discrimination, and questionable resource tradeoffs.Conclusions:APOL1 results should be offered to participants. Responsibly fulfilling this offer requires careful identification of best communication practices, broader education about the topic, and ongoing community engagement.

Experience With Advance Care Planning Discussions Among Pregnant Women With Congenital Heart Disease.

CONTEXT: Women with adult congenital heart disease (ACHD) have an increased risk of adverse events during pregnancy. Advance care planning may therefore be an appropriate component of prenatal care. OBJECTIVE: The aim of this study was to describe the perspectives of women with ACHD surrounding advance care planning during pregnancy. METHODS: We conducted a thematic analysis of 25 semi-structured interviews with women with ACHD who had been pregnant. Purposive sampling was used to gain diversity in ACHD lesion complexity, race, age at pregnancy, and marital status. RESULTS: Mean age at pregnancy was 29 years (range 15-41 years), and ACHD was classified as simple (24%), moderate (44%), or complex (32%). We identified three primary themes: 1) the role of advance care planning in being prepared and providing security for family; 2) reasons for avoiding advance care planning, including its lower priority among more pressing concerns and the impact it might have on their current psychological state; and 3) varied openness to advance care planning discussions during pregnancy. CONCLUSION: Advance care planning is not a routine part of prenatal care in ACHD, and its role in this population requires further assessment.

At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants.

Whether individual results of genetic research studies ought to be disclosed to study participants has been debated in recent decades. Previously, the prevailing expert view discouraged the return of individual research results to participants because of the potential lack of analytic validity, questionable clinical validity and medical actionability, and questions about whether it is the role of research to provide participants with their data. With additional knowledge of participant perspectives and shifting views about the benefits of research and respect for participants, current expert consensus is moving toward support of returning such results. Significant ethical controversies remain, and there are many practical questions left to address, including appropriate procedures for returning results and the potential burden to clinicians when patients seek guidance about the clinical implications of research results. In this review, we describe current views regarding the return of genetic research results, including controversies and practical challenges, and consider the application of these issues to research on apolipoprotein L1 (APOL1), a gene recently associated with health disparities in kidney disease. Although this case is unique, it illustrates the complexities involved in returning results and highlights remaining questions.

dbGaP data access requests: a call for greater transparency.

The scientific and public health benefits of mandatory data-sharing mechanisms must be actively demonstrated. To this end, we manually reviewed 2724 data access requests approved between June 2007 and August 2010 through the U.S. National Center for Biotechnology Information database of genotypes and phenotypes (dbGaP). Our analysis demonstrates that dbGaP enables a wide range of secondary research by investigators from academic, governmental, and nonprofit and for-profit institutions in the United States and abroad. However, limitations in public reporting preclude the tracing of outcomes from secondary research to longer-term translational benefit.