Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.

Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct benefit to patients. We describe the biobank at the Colorado Center for Personalized Medicine (CCPM Biobank) that was jointly developed by the University of Colorado Anschutz Medical Campus and UCHealth to serve as a unique, dual-purpose research and clinical resource accelerating personalized medicine.

Large scale proteomic studies create novel privacy considerations.

Privacy protection is a core principle of genomic but not proteomic research. We identified independent single nucleotide polymorphism (SNP) quantitative trait loci (pQTL) from COPDGene and Jackson Heart Study (JHS), calculated continuous protein level genotype probabilities, and then applied a naïve Bayesian approach to link SomaScan 1.3K proteomes to genomes for 2812 independent subjects from COPDGene, JHS, SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS) and Multi-Ethnic Study of Atherosclerosis (MESA).

A stakeholder engagement method navigator webtool for clinical and translational science.

Stakeholder engagement is increasingly expected by funders and valued by researchers in clinical and translational science, yet many researchers lack access to expert consultation or training in selecting appropriate stakeholder engagement methods. We describe the development of a novel Stakeholder Engagement Navigator webtool. We conducted an environmental scan and literature review, along with investigator interviews, surveys, and engagement expert facilitated group discussion.

Patient Perspectives on Religiously Affiliated Care in Rural and Urban Colorado.

Introduction: Religiously affiliated healthcare organizations play an important role in the delivery of care in the United States. There is a gap in the literature regarding patients' attitudes toward receiving care at these institutions, especially in geographically diverse populations.

Methods: In this two-site pilot study, we conducted a written survey of 141 adult primary care patients at non-religiously affiliated clinics in rural and urban Colorado.

Patient desire for spiritual assessment is unmet in urban and rural primary care settings.

Background: Incorporation of patient religious and spiritual beliefs in medical care has been shown to improve the efficacy of medical interventions and health outcomes. While previous study has highlighted differences in patient desire for spiritual assessment based on patient religiosity, little is known about patient desire for spiritual assessment based on community type, particularly in urban compared to rural communities. We hypothesized that, given demographic trends which show a higher degree of religiosity in rural areas, patients in rural communities will be more likely to desire spiritual assessment.

Research participant understanding and engagement in an institutional, self-consent biobank model.

The number of institutional and governmental biobanks and the target enrollment sizes of modern biobanks are increasing, affording more opportunities for the public to participate in biobanking efforts. In parallel with these expansions are pressures to increase the efficiency of obtaining informed consent using shorter consent forms that cover a broader scope of research and increasingly include provisions for return of research or clinical genetic test results to participants. Given these changes, how well these participants understand genetics, their level of understanding of what they are consenting to, and their wishes to engage longitudinally and receive biobank results are not well understood.

Cannabis use disorder and male sex predict medical cannabis card status in a sample of high risk adolescents.

Objective: To examine if a substance use disorder (SUD), especially cannabis use disorder in adolescence, predicts future medical cannabis card status among high-risk youth.

Methods: Data collection occurred in Denver and San Diego. We recruited adolescents, with or at high risk for SUD and conduct problems (hereafter probands) and their siblings (n=654).

Translating Biobank Science into Patient-Centered Language.

Introduction: This project used Boot Camp Translation (BCT) to translate the complex medical jargon of biobanking into locally relevant evidence-based messages and materials to support increased knowledge and understanding in the local community.

Methods: Biobank BCT was a partnership of 16 community members and 5 academic researchers. The partnership met for 8 months.

A randomized trial of heart failure disease management in skilled nursing facilities (SNF Connect): Lessons learned.

Background/aims: Conducting clinical trials in skilled nursing facilities is particularly challenging. This manuscript describes facility and patient recruitment challenges and solutions for clinical research in skilled nursing facilities.

Methods: Lessons learned from the SNF Connect Trial, a randomized trial of a heart failure disease management versus usual care for patients with heart failure receiving post-acute care in skilled nursing facilities, are discussed.

Adolescents with substance use disorder and assent/consent: Empirical data on understanding biobank risks in genomic research.

Objective: This study assessed whether a customized disclosure form increases understanding for adolescents with substance use disorder (SUD) when compared to a standard disclosure for genomic addiction research.

Method: We gathered empirical data from adolescents with SUD, family members, former patients followed since adolescence, and community counterparts. The study was conducted in four stages.

Ethical precepts for medical volunteerism: including local voices and values to guide RHD surgery in Rwanda.

At the invitation of the Rwandan Government, Team Heart, a team of American healthcare professionals, performs volunteer rheumatic heart disease (RHD) surgery in Rwanda every year, and confronts ethical concerns that call for cultural sensitivity. This article describes how five standard bioethical precepts are applied in practice in medical volunteerism related to RHD surgery in Rwanda. The content for the applied precepts stems from semiscripted, transcribed conversations with the authors, two Rwandan cardiologists, a Rwandan nurse and a Rwandan premedical student.

Adolescent perspectives on the return of individual results in genomic addiction research.

This study surveyed all adolescents who were enrolled in behavioral genomic research and provided DNA to a biobank, including 320 patients undergoing treatment for substance and conduct problems (SCPs) and 109 non-SCP controls. Participants selected from three options on the return of individual genomic results (RIR) and rated eight methods of re-contact. Most individuals with SCPs (77.

Research ethics consultation: ethical and professional practice challenges and recommendations.

The complexity of biomedical research has increased considerably in the last decade, as has the pace of translational research. This complexity has generated a number of novel ethical issues for clinical investigators, institutional review boards (IRBs), and other oversight committees. In response, many academic medical centers have created formal research ethics consultation (REC) services to help clinical investigators and IRBs navigate ethical issues in biomedical research.

What adolescents enrolled in genomic addiction research want to know about conflicts of interest.

Background: Perspectives of adolescent research participants regarding conflicts of interest (COIs) and their impact on trust in researchers have not been studied. This study evaluates views of adolescent patients in treatment for substance and conduct problems compared to controls enrolled in genomic addiction research.

Methods: Participants included 273 (190 patients, 83 controls) adolescents.

Exploring ethical conflicts in emergency trauma research: the COMBAT (Control of Major Bleeding after Trauma) study experience.

Background: Up to 25% of severely injured patients develop trauma-induced coagulopathy. To study interventions for this vulnerable population for whom consent cannot be obtained easily, the Food and Drug Administration issued regulations for emergency research with an exception from informed consent (ER-EIC). We describe the community consultation and public disclosure (CC/PD) process in preparation for an ER-EIC study, namely the Control Of Major Bleeding After Trauma (COMBAT) study.

Reporting actionable research results: shared secrets can save lives.

In this Commentary, we describe a cryptographic method for returning research results to individuals who participate in clinical studies. Controlled use of this method, which relaxes the typical anonymization guarantee, can ensure that clinically actionable results reach participants while also addressing most privacy concerns.

Informed consent process in Alpha-1 testing of at-risk children: views of parents and adults tested as children.

Targeted testing programs are identifying increasing numbers of adults affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) who are making decisions about genetic testing for their at-risk children. Although there are possible benefits, there are also potential risks. The purpose of this pilot study was to explore attitudes toward testing at-risk children from the first hand perspective of those involved, identify the benefits and risks experienced therein, and compare the views of parents and adults tested as children (ATC).

The ethics of using transgenic non-human primates to study what makes us human.

A flood of comparative genomic data is resulting in the identification of human lineage-specific (HLS) sequences. As apes are our closest evolutionary relatives, transgenic introduction of HLS sequences into these species has the greatest potential to produce 'humanized' phenotypes and also to illuminate the functions of these sequences. We argue that such transgenic apes would also be more likely than other species to experience harm from such research, which renders such studies ethically unacceptable in apes and justifies regulatory barriers between these species and other non-human primates for HLS transgenic research.

Substance use disorder genetic research: investigators and participants grapple with the ethical issues.

Objective: This qualitative research examined the ethical concerns regarding the psychosocial issues, research design and implementation, and application of psychiatric genetic research on substance use disorders (SUD) from multiple perspectives.

Methods: A literature review of the bioethics literature related to psychiatric genetics and focus groups explored the ethical implications of SUD genetic research. Twenty-six National Institute on Drug Abuse funded principal investigators in the field of psychiatric genetic research, nine adolescent patients in residential SUD treatment, and 10 relatives of patients participated in focus groups (held separately).