Public Health Genomics

INTRODUCTION: Early adopters play a critical role in the diffusion of medical innovations by spreading awareness, increasing acceptability, and driving demand. Understanding the role of race in the context of other characteristics of potential early adopters can shed light on disparities seen in the early implementation of genomic medicine. We aimed to understand the association between self-identified race and individual experience with genetic testing outside of the research context...

INTRODUCTION: Encouraging family communication about possible genetic risk has become among the most important avenues for achieving the full potential of genomic discovery for primary and secondary prevention. Yet, effective family-wide risk communication (i.e., conveying genetic risk status and its meaning for other family members) remains a critical gap in the field. We aim to describe the iterative process of developing a scalable population-based communication outreach intervention, Your Family Connects, to reach ovarian cancer survivors and close relatives to communicate the potential for inherited risk and to consider genetic counseling...

INTRODUCTION: Federal agencies have instituted guidelines to prioritize the enrollment and retention of diverse participants in precision medicine research (PMR). Prior studies examining participation of minoritized communities have shown that potential benefits represent a key determinant. Human subjects research guidance, however, conceptualizes potential benefits narrowly, emphasizing generalized advances in medical knowledge. Further, few studies have provided qualitative data that critically examine how the concept of 'benefit' is interpreted or challenged in the context of research practice...

INTRODUCTION: The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference Services for Rare Diseases (RDRS), Reference Services for Newborn Screening (NSRS), and University Hospitals (UH) distributed in all Brazilian regions...

This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this one-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic...

INTRODUCTION: Engaging youth as peer educators has yet to be considered to promote literacy concerning conjoint genetic and environmental (G x E) influences on health conditions. Whether youth living in Low and Middle Income Countries (LMICs) could and would be willing to serve as lay educators of G x E education is unclear. METHODS: A cross-sectional survey of youth living in Southern Ethiopia was conducted from August to September 2017. Trained data collectors administered the survey on 377 randomly selected youth who ranged in age from 15-24; 52% were female and 95% reported having some formal education...

INTRODUCTION: Though it is well established that genetic information does not produce behavior changes, there are limited data regarding whether genetic counseling can facilitate change in life-style and health behaviors that can result in improved health outcomes. METHODS: To explore this issue, we conducted semi-structured interviews with eight patients who had lived experience of psychiatric illness, and who had received psychiatric genetic counseling (PGC). Using interpretive description, we used a constant comparative approach to data analysis...

INTRODUCTION: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. METHODS: We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021...

INTRODUCTION: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. METHODS: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were enrolled between April 2018 and October 2019. Proportions were calculated to assess intention to communicate updated genetic test results to living immediate family, extended family, and all family...

INTRODUCTION: Apelin could be one of the last protective defenses before developing obesity-related disorders, including insulin resistance, type 2 diabetes, and hypertension, which can be modified by dietary intake. The present study investigated the association of habitual intake of total fatty acids (TFAs), saturated-, monounsaturated-, polyunsaturated FAs, n-3, and n-6 FAs with Apelin expression in visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT). METHODS: We obtained VAT and SAT from 168 participants (64 nonobese and 104 obese) who had undergone open abdominal surgery...

BACKGROUND: Genomics has growing relevance to palliative care, where testing largely benefits relatives. Integration of genomics into the care of patients with palliative care needs has not received the critical attention it requires, and health professionals report a lack of policy guidance to support them to overcome practice barriers. SUMMARY: To identify policy recommendations related to: (1) integrating genomics into the care of patients with palliative care needs and their families, and (2) care of the family unit, we performed a scoping review of palliative care and genomic policies...

BACKGROUND: The study aimed to evaluate the association of genetic variants in MIR3142HG with the predisposition of IgA nephropathy (IgAN) in a Chinese Han population. METHODS: Six single-nucleotide polymorphisms (SNPs) in MIR3142HG were chosen for genotyping among 417 IgAN cases and 424 healthy controls using Agena MassARRAY technique. Logistic regression models adjusted for age and gender were used to calculate odds ratios (ORs) and 95% confidence intervals (CI)...

INTRODUCTION: Family history is an established risk factor for both cardiovascular disease (CVD) and diabetes; however, no study has presented population-based prevalence estimates of family histories of CVD and diabetes and examined their joint impact on prevalence of diabetes, CVD, cardiometabolic risk factors, and mortality risk. METHODS: We analyzed data from a representative sample of the US adult population including 29,440 participants from the National Health and Nutrition Examination Survey (2007-2018) and assessed self-reported first-degree family history of diabetes and CVD (premature heart disease before age of 50 years) as well as meeting criteria and/or having risk factors for CVD and diabetes...

INTRODUCTION: This cluster-randomized controlled trial aimed to assess the effect of the "Which test is best?" tool on risk-appropriate screening (RAS) and colorectal cancer (CRC) screening uptake. METHODS: General practices in Sydney and Melbourne, Australia, and a random sub-sample of 460 patients (aged 25-74 years) per practice were invited by post. Clusters were computer randomized independently of the researchers to an online CRC risk calculator with risk-based recommendations versus usual care...

INTRODUCTION: The rapidly expanding direct-to-consumer genetic testing (DTC GT) market is one area where narratives of underrepresented populations have not been explored extensively. This study describes African-American consumers' personal experiences with and perceptions about DTC GT and explores similarities and differences between African-Americans and an earlier cohort of mostly European American consumers. METHODS: Twenty semi-structured, qualitative interviews were held with individuals who self-identified as Black/African-American and completed DTC GT between February 2017 and February 2020...

OBJECTIVE: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. STUDY DESIGN: We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. RESULTS: All participants were interested in some degree of NBS expansion...

INTRODUCTION: The tumor necrosis factor alpha inducible protein 3 (TNFAIP3) gene produces ubiquitin-editing protein A20, which inhibits nuclear factor-κB (NF-κB) activation in a variety of signaling pathways. We examined the association between TNFAIP3 polymorphisms and rheumatoid arthritis (RA) susceptibility. METHODS: MEDLINE, Embase, Scopus, and Web of Science were searched for available articles on TNFAIP3 polymorphisms in RA patients from inception until July 11, 2022...

INTRODUCTION: Precision medicine research investigates the differences in individuals' genetics, environment, and lifestyle to tailor health prevention and treatment options as part of an emerging model of health care delivery. Advancing precision medicine research will require effective communication across a wide range of scientific and health care disciplines and with research participants who represent diverse segments of the population. METHODS: A multidisciplinary group convened over the course of a year and developed precision medicine research case examples to facilitate precision medicine research discussions with communities...

INTRODUCTION: Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a BRCA mutation, which is 10 times the general population risk. JScreen launched the PEACH BRCA Study, a telehealth-based platform for BRCA education and testing, with the goal of creating an effective model for BRCA testing in low-risk AJ individuals who do not meet national testing criteria. Other goals were to determine the rate of BRCA mutations in this group, to assess the adequacy of screening for the 3 common AJ founder mutations only, and to assess satisfaction with the telehealth model to help inform a national launch of a broader cancer genetic testing program...

BACKGROUND: Lung cancer is one of the deadliest cancers, early diagnosis of which can efficiently enhance patient's survival. We aimed to screening out the serum miRNAs as diagnostic biomarkers for patients with lung cancer. METHODS: A total of 416 remarkably differentially expressed miRNAs were acquired using the limma package, and next feature ranking was derived by the minimal-redundancy-maximal-relevance method. An incremental feature selection algorithm of a random forest (RF) classifier was utilized to choose the top 5 miRNA combination with the optimum predictive performance...