Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.

Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing.

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Background: Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is lacking.

Patient-Guided Tours: A Patient-Centered Methodology to Understand Patient Experiences of Health Care.

Purpose: The experience-based design approach using patient-guided tours (PGT) has been suggested as an effective way to understand the patient experience and may better allow the patient to recall thoughts and feelings. The objective of this study was to assess how patients with a disability perceive the effectiveness of PGTs for understanding their experiences of receiving primary health care.

Methods: A qualitative study design was used.

A model for the return and referral of all clinically significant secondary findings of genomic sequencing.

Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range of health benefits to patients. Resource and capacity constraints pose a challenge to their clinical management; therefore, clinical workflows are needed to optimise the health benefits of SFs. In this paper, we describe a model we created for the return and referral of all clinically significant SFs, beyond medically actionable results, from GS.

Great expectations: patients' preferences for clinically significant results from genomic sequencing.

We aimed to describe patient preferences for a broad range of secondary findings (SF) from genomic sequencing (GS) and factors driving preferences. We assessed preference data within a trial of the Genomics ADvISER, (SF decision aid) among adult cancer patients. Participants could choose from five categories of SF: (1) medically actionable; (2) polygenic risks; (3) rare diseases; (4) early-onset neurological diseases; and (5) carrier status.

Psychological Distress and Behavioural Changes in Pregnant and Postpartum Individuals During the COVID-19 Pandemic.

Objectives: To determine the psychological and behavioural effects of the COVID-19 pandemic on a Canadian cohort of individuals during pregnancy and the postpartum period.

Methods: In 2020, individuals between 20 weeks gestation and 3 months postpartum receiving maternity care from an urban Canadian clinic were invited to complete a questionnaire. The purpose-built questionnaire used validated scales including the Medical Outcomes Study Social Support Survey (MOS), Depression, Anxiety, and Stress Scale (DASS-21), Edinburgh Postnatal Depression Scale (EPDS), and questions from a SARS study.

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.

Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically significant primary and SF results.

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.

Introduction: The high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital tools are increasingly being used to support multiple points in the genetic testing journey; however, none are transferable across multiple clinical specialties and settings nor do they encompass the entire trajectory of the journey. We aim to evaluate the effectiveness of the Genetics Adviser, an interactive, patient-facing, online digital health tool that delivers pre-test counselling, provides support during the waiting period for results, and returns results with post-test counselling, encompassing the entire patient genetic testing journey.

Pregnant during the COVID-19 pandemic: an exploration of patients' lived experiences.

Background: Infectious outbreaks are known to cause fear and panic. Exploration of pregnant individuals' psychosocial condition using a qualitative lens during an infectious outbreak is limited. In this study we explore pregnant individuals' lived experiences as well as their psychological and behavioural responses during COVID-19 with the goal of providing useful strategies from the patient's perspective to enable health care providers to help pregnant patients navigate this and future pandemics.

Challenges and practical solutions for managing secondary genomic findings in primary care.

Primary care providers will increasingly be tasked with managing most secondary findings from genomic sequencing, but literature exploring their capacity to manage findings beyond conventional genetic testing is limited. This study aimed to explore primary care providers' challenges and potential solutions for managing secondary findings. Providers were recruited in two groups.

A Master Class in Family Doctor Leadership: Evaluating an Innovative Program.

Background And Objectives: In family medicine, leadership is critical for health care delivery, advancing curricula, research, and quality improvement. Systematic reviews of leadership development programs in health care identify limitations, calling for innovative designs and rigorous assessment. Our objective was to evaluate the impact of applying master class principles to leadership development in academic family medicine.

Anticipating the primary care role in genomic medicine: expectations of genetics health professionals.

Our purpose was to explore genetics health professionals' (GHPs) expectations of primary care providers' (PCPs) role in genomic medicine now and in the future. Focus groups/interviews were conducted with GHPs in Ontario, Canada. Recordings were transcribed and analysed using qualitative descriptive analysis.

Experiences of patients with a disability in receiving primary health care: Using experience-based design for quality improvement.

Objective: To use patient-guided tours to gain insight into the experiences of patients with disabilities receiving primary care, with the goal of suggesting improvements.

Design: A qualitative experience-based design study, using patient-guided tours.

Setting: Multidisciplinary academic urban primary care practice.

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.

Objective: To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results.

Design: Mailed questionnaire.

Setting: Ontario.

Primary care providers' role in newborn screening result notification for cystic fibrosis.

Objective: To explore primary care providers' (PCPs') role in result notification for newborn screening (NBS) for cystic fibrosis (CF), given that expanded NBS has increased the number of positive screening test results, drawing attention to the role of PCPs in supporting families.

Design: Cross-sectional survey and qualitative interviews.

Setting: Ontario.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

Purpose: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions.

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.

Purpose: Alternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment traditional counseling and reduce burden on professionals; however, their role in delivery of genetic counseling is not established. This study explored the role of the Genomics ADvISER, a digital decision aid, in delivery of genomic counseling.

Effect of genetics clinical decision support tools on health-care providers' decision making: a mixed-methods systematic review.

Purpose: Patient care involving genetics is challenging for nongenetics health-care providers. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or management recommendations. This systematic review synthesized evidence on whether using CDS tools resulted in appropriate changes in genetics-related patient management made by nongenetics health-care providers.

Hereditary colorectal cancer screening: A 10-year longitudinal cohort study following an educational intervention.

Family history (FH) of a first-degree relative with colorectal cancer (CRC) is associated with two to fourfold increased risk, yet screening uptake is suboptimal despite proven mortality reduction. We developed a FH-based CRC Risk Triage/Management tool for family physicians (FPs), and educational booklet for patients with CRC FH. This report describes physician referral and patient screening behavior 5 and 10 years post-educational intervention, and factors associated with screening.

Nicotine dependence as a risk factor for upper aerodigestive tract (UADT) cancers: A mediation analysis.

Purpose: This study investigated nicotine dependence as an independent risk factor for upper aerodigestive tract (UADT) cancers, including lung and head and neck cancers (HNC). The study aimed to isolate the direct effect of nicotine dependence, independent of tobacco smoking.

Methods: A case-control study with a total of 4957 participants was conducted in Ontario, Canada, of which 2964 categorized as either current or former smokers were used in the analysis.

Quality of life drives patients' preferences for secondary findings from genomic sequencing.

There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology assessment (HTA) of genomic tests such as genomic sequencing (GS). However, personal utility and clinical utility are challenging to define and measure. This study aimed to explore what drives patients' preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF.

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis.

Objective: The cost effectiveness of noninvasive prenatal testing (NIPT) has been established for high-risk pregnancies but remains unclear for pregnancies at other risk levels. The aim was to assess the cost effectiveness of NIPT in average-risk pregnancies from the perspective of a provincial public payer in Canada.

Methods: A model was developed to compare traditional prenatal screening (TPS), NIPT as a second-tier test (performed only after a positive TPS result), and NIPT as a first-tier test (performed instead of TPS) for trisomies 21, 18, and 13; sex chromosome aneuploidies; and microdeletions in a hypothetical annual population cohort of average-risk pregnancies (142 000 to 148,000) in Ontario, Canada.