What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study.

Patient choice consent for whole genome sequencing (WGS) through the Genomic Medicine Service in England covers consent to diagnostic testing and an invitation to the National Genomic Research Library (NGRL). Little is known about what consent conversations for WGS look like in practice. We audio-recorded and analysed the content and structure of consent appointments (n = 26) between healthcare professionals (HCPs) and parents of children with rare disease across seven NHS Trusts.

Pharmacogenomic knowledge and awareness among diverse patients treated with angiotensin converting enzyme inhibitors.

We developed novel electronic phenotyping algorithms for the Bio biobank data, which accurately identified angiotensin converting enzyme inhibitor (ACEi)-induced angioedema cases and controls. A survey was mailed to all 1075 patients and 91 were returned. Over a third reported that prescribing physicians had not discussed with them the concepts of interindividual drug response variability or adverse event risk, and 73% of patients were previously unaware of pharmacogenomics; however, most patients were interested in having pharmacogenomic testing.

Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project.

We used cross-sectional surveys to compare the knowledge, attitudes, and decision regret of participants who had consented for genome sequencing (GS) for rare disease diagnosis in the 100,000 Genomes Project (100kGP) across two timepoints (at the time of consenting for GS (T1) and 12-18 months later (T2)). At T1, participants (n = 504) completed a survey that included measures of general knowledge of GS ("Knowledge of Genome Sequencing" (KOGS)), specific knowledge of GS and attitudes towards GS ("General attitudes" and "Specific attitudes"). At T2, participants (n = 296) completed these same assessments (apart from the specific knowledge scale) together with an assessment of decision regret towards GS ("Decisional Regret Scale").

Impact of public exhibition on the perception of birthmarks.

Background: The importance of photographs in social media, the steep rise in popularity of tattoos, and the prominence of individuals with visibly different skin in fashion are likely to be changing the landscape of self- and public perception of birthmarks. Study objectives were to assess the impact of a photoshoot and public exhibition on the self-perception of individuals with extensive birthmarks, and to explore the viewing public's reactions.

Methods: Thirty individuals with congenital melanocytic nevi (CMN) were recruited internationally.

Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.

Objective: Ashkenazi-Jewish (AJ) population-based BRCA testing is acceptable, cost-effective and amplifies primary prevention for breast & ovarian cancer. However, data describing lifestyle impact are lacking. We report long-term results of population-based BRCA testing on lifestyle behaviour and cancer risk perception.

Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews.

Unselected population-based personalised ovarian cancer (OC) risk assessments combining genetic, epidemiological and hormonal data have not previously been undertaken. We aimed to understand the attitudes, experiences and impact on the emotional well-being of women from the general population who underwent unselected population genetic testing (PGT) for personalised OC risk prediction and who received low-risk (<5% lifetime risk) results. This qualitative study was set within recruitment to a pilot PGT study using an OC risk tool and telephone helpline.

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study.

In this mixed methods study, a survey and in-depth interviews were used to explore whether decision regret and the psychological impact of receiving genome sequencing (GS) results differed between parents and patients, and between those who received a genetic diagnosis and those who did not. Participants (n = 77) completed a survey that included the Decisional Regret Scale (DRS) and an adaptation of the Multidimensional Impact of Cancer Risk Assessment (MICRA) at least 12 months after consenting for GS for rare disease diagnosis in the 100,000 Genomes Project. Survey participants were invited to take part in an interview and 39 agreed; 12 with a diagnosis, 5 with variants of uncertain significance, and 19 with no pathogenic findings identified.

Effects of Testing and Disclosing Ancestry-Specific Genetic Risk for Kidney Failure on Patients and Health Care Professionals: A Randomized Clinical Trial.

Importance: Risk variants in the apolipoprotein L1 (APOL1 [OMIM 603743]) gene on chromosome 22 are common in individuals of West African ancestry and confer increased risk of kidney failure for people with African ancestry and hypertension. Whether disclosing APOL1 genetic testing results to patients of African ancestry and their clinicians affects blood pressure, kidney disease screening, or patient behaviors is unknown.

Objective: To determine the effects of testing and disclosing APOL1 genetic results to patients of African ancestry with hypertension and their clinicians.

Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol.

Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases.

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.

Purpose: The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis.

Methods: This study involved a cross-sectional observational survey with participants in the 100,000 Genomes Project.

Results: Survey response rate was 51% (504/978).

Animation or leaflet: Does it make a difference when educating young people about genome sequencing?

Objective: To compare the effectiveness of an animation against two leaflets with and without images, in educating young people about genome sequencing (GS).

Methods: An experimental survey with three assessment points (pre- intervention [T1], post - intervention [T2], 6-week follow-up [T3]). Participants (N = 606) were randomly assigned to receive one of three educational interventions; animation (n = 212); leaflet with images (n = 197); or leaflet with text only (n = 197).

Women's Intentions to Engage in Risk-Reducing Behaviours after Receiving Personal Ovarian Cancer Risk Information: An Experimental Survey Study.

Risk stratification using genetic and/or other types of information could identify women at increased ovarian cancer risk. The aim of this study was to examine women's potential reactions to ovarian cancer risk stratification. A total of 1017 women aged 45-75 years took part in an online experimental survey.

Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project.

Genome sequencing (GS) will have a profound impact on the diagnosis of rare and inherited diseases in children and young people. We conducted 27 semi-structured interviews with young people aged 11-19 having GS through the UK 100, 000 Genomes Project. Participants demonstrated an understanding of the role and function of genes and DNA, however the terms 'genome' and 'genome sequencing' were less well understood.

Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention.

Unlabelled: Unselected population-based personalised ovarian cancer (OC) risk assessment combining genetic/epidemiology/hormonal data has not previously been undertaken. We aimed to perform a feasibility study of OC risk stratification of general population women using a personalised OC risk tool followed by risk management. Volunteers were recruited through London primary care networks.

Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study.

The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their data for research, and are offered optional secondary findings. Our aim was to explore participating parents' attitudes towards and understanding of genome sequencing in this hybrid context. We conducted in-depth telephone interviews with 20 parents of children with rare diseases participating in the 100,000 Genomes Project.

Development and mixed-methods evaluation of an online animation for young people about genome sequencing.

Children and young people with rare and inherited diseases will be significant beneficiaries of genome sequencing. However, most educational resources are developed for adults. To address this gap in informational resources, we have co-designed, developed and evaluated an educational resource about genome sequencing for young people.

Attitudes towards risk-stratified breast cancer screening among women in England: A cross-sectional survey.

Objectives: Risk stratification may improve the benefit/harm ratio of breast screening. Research on acceptability among potential invitees is necessary to guide implementation. We assessed women's attitudes towards and willingness to undergo risk assessment and stratified screening.

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project.

Objectives: Genome sequencing is poised to be incorporated into clinical care for diagnoses of rare diseases and some cancers in many parts of the world. Healthcare professionals are key stakeholders in the clinical delivery of genome sequencing-based services. Our aim was to explore views of healthcare professionals with experience of offering genome sequencing via the 100 000 Genomes Project.

Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.

Genome sequencing (GS) is increasingly being used to diagnose rare diseases in paediatric patients; however, no measures exist to evaluate their knowledge of this technology. We aimed to develop a robust measure of knowledge of GS (the kids-KOGS') suitable for use in the paediatric setting as well as for general public education. The target age was 11 to 15 year olds.

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Conceptual frameworks are useful in research because they can highlight priority research domains, inform decisions about interventions, identify outcomes and factors to measure, and display how factors might relate to each other to generate and test hypotheses. Discovery, translational, and implementation research are all critical to the overall mission of genomic medicine and prevention, but they have yet to be organized into a unified conceptual framework. To fill this gap, our diverse team collaborated to develop the Genomic Medicine Integrative Research (GMIR) Framework, a simple but comprehensive tool to aid the genomics community in developing research questions, strategies, and measures and in integrating genomic medicine and prevention into clinical practice.

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.

Background: Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes of the PeopleSeq Consortium, a multi-cohort collaboration of predispositional genome sequencing projects, which is examining the medical, behavioral, and economic outcomes of returning genomic sequencing information to healthy individuals.

Methods: Apparently healthy adults who participated in four of the sequencing projects in the Consortium were included.

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.

Purpose: Little is known about how health-care professionals communicate with patients about consenting to genome sequencing. We therefore examined what topics health-care professionals covered and what questions patients asked during consent conversations.

Methods: Twenty-one genome sequencing consent appointments were audio recorded and analyzed.

Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey.

Background: The factors influencing parents' willingness to enroll their children in biobanks are poorly understood. This study sought to assess parents' willingness to enroll their children, and their perceived benefits, concerns, and information needs under different consent and data-sharing scenarios, and to identify factors associated with willingness.

Methods: This large, experimental survey of patients at the 11 eMERGE Network sites used a disproportionate stratified sampling scheme to enrich the sample with historically underrepresented groups.

Increasing genomic literacy among adolescents.

Purpose: Adolescents increasingly need to be "genomics literate," and may engage more with video educational formats than traditional written formats. We conducted a pilot study to assess and compare the impact of two modes of education about genome sequencing (GS) on adolescents' genomic knowledge and genomic-related decisions.

Methods: Using an online survey, 43 adolescents ages 14-17 years were randomly assigned to watch a video or read a pamphlet about GS.