Public Health Genomics最新文献

Introduction: Biospecimens are tools that have the potential to improve early identification and treatment for autism spectrum disorders (ASD) and bipolar disorders (BPD). Unfortunately, most biobanks lack racial/ethnic diversity. One challenge to including a diverse sample of youth is recruiting and engaging families.

Objective: We sought to better understand facilitators and barriers to participation in biospecimen research among a diverse group of parents of youth with ASD and BPD.

Methods: The current study involved 3 Mental Health Research Network sites. At each site, parents participated in an interview that explored attitudes and beliefs about genetic research. Interviews were audio-recorded, and audio files were transcribed and coded using content analysis.

Results: A total of 58 interviews were conducted. Four challenges emerged: (1) contacting and engaging potential research participants, (2) motivating potential participants to read recruitment and consent materials, (3) motivating participation in research, in general, and (4) motivating participation in research involving biospecimen donation, specifically.

Conclusions: Participants were eager to participate as long as the research process involved trust, clarity, and flexibility. Future research involving youth with mental health conditions would benefit from implementing multimodal strategies for recruitment and data collection and sharing knowledge gained by the research with study participants.

Objective: Accumulated evidence suggests that ATP-binding cassette A1 transporter (ABCA1) contributes to secreting insulin in pancreatic β-cells and amyloid beta formation. This study aimed to investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 and susceptibility to type 2 diabetes mellitus (T2DM) in a Han Chinese population.

Methods: A total of 996 T2DM patients and 1,002 controls were included in the study. Three SNPs in the ABCA1 gene, i.e., rs2230806 (R219K), rs1800977 (C69T), and rs9282541 (R230C), were genotyped by SNaPshot. A genotype model, an allele model, a dominant model, and a recessive model were used to assess susceptibility to T2DM.

Results: There were significant associations between rs1800977 and T2DM in different genetic models (TT vs. CC, OR = 0.591 [0.446-0.793], p < 0.001; T vs. C, OR = 0.835 [0.735-0.949], p = 0.006; recessive model, OR = 0.583 [0.449-0.756], p < 0.001). There were also significant associations between rs9282541 and T2DM in different genetic models (CT vs. CC, OR = 1.690 [0.807-1.005], p = 0.048; T vs. C, OR = 1.756 [0.694-1.060], p = 0.029; dominant model, OR = 1.735 [0.715-1.034], p = 0.037).

Conclusion: Our case-control study showed that the two SNPs rs1800977 and rs9282541 in the ABCA1 gene are significantly associated with susceptibility to T2DM in our Han Chinese population. Study of further mechanisms should be performed before application to clinical therapy.

Background: Increasing studies have reported that 5'-nucleotidase cytosolic II (NT5C2) has a strong relationship with coronary heart disease (CHD) development. This study was designed to examine the relationship between NT5C2 polymorphisms and CHD in the Chinese Han population.

Methods: We studied 501 CHD patients and 496 healthy controls from the Second Affiliated Hospital of Hainan Medical University in Hainan Province, China. Four single nucleotide polymorphisms (SNPs) in NT5C2 were selected and genotyped using Agena MassARRAY technology. Odds ratios and 95% confidence intervals were calculated using logistic regression after adjusting for age and gender. Stratification analysis was performed by age and gender in all individuals; we especially investigated the effects of NT5C2 SNPs on hypertension and diabetes among CHD patients.

Results: rs2148198 of NT5C2 was strongly associated with an increased risk of CHD (allele: p = 0.045; codominant: p = 0.007; additive: p = 0.016). Stratified analysis revealed that rs2148198 was associated with increased CHD risk in individuals aged ≤61 years and males. For CHD patients, rs2148198 significantly affected the risk of hypertension and diabetes (p < 0.05). Further, rs79237883 of NT5C2 was associated with decreased susceptibility to hypertension in multiple genetic models for individuals with CHD (allele: p = 0.007; codominant: p = 0.001; dominant: p = 0.001; additive: p = 0.008).

Conclusion: This study reports the association of NT5C2 gene variants and CHD susceptibility in the Chinese Han population. Especially, NT5C2 rs2148198 was significantly associated with CHD risk in the subgroups of males, hypertension, and diabetes.

Objective: To show how state health agencies can plan and evaluate activities to strengthen the evidence base for public health genomics, we mapped state cancer genomics activities to the Doyle et al. [Genet Med. 2018;20(9):995-1003] implementation science outcome framework.

Methods: We identified state health agency activities addressing hereditary breast and ovarian cancer and Lynch syndrome by reviewing project narratives from Centers for Disease Control and Prevention Cancer Genomics Program funding recipients, leading discussions with state health agencies, and conducting an environmental scan.

Results: State health agencies' cancer genomics activities included developing or adding to state surveillance systems, developing educational materials, bidirectional reporting, promoting health plan policy change, training providers, and promoting recommendations and standards. To address health disparities, programs have tracked group differences, developed culturally appropriate educational materials, and promoted access to services for underserved populations.

Conclusion: State health agencies can use the Doyle et al. [Genet Med. 2018;20(9):995-1003] performance objectives and outcome measures to evaluate proposed and ongoing activities. By demonstrating whether activities result in improved outcomes, state health agencies can build the evidence for the implementation of cancer genomics activities.

Genetic factors significantly contribute to the burden of hearing impairment (HI) in Ghana as there is a high carrier frequency (1.5%) of the connexin 26 gene founder variant GJB2-R143W in the healthy Ghanaian population. GJB2-R143W mutation accounts for nearly 26% of causes in families segregating congenital non-syndromic HI. With HI associated with high genetic fitness, this indicates that Ghana will likely sustain an increase in the number of individuals living with inheritable HI. There is a universal newborn hearing screening (UNHS) program in Ghana. However, this program does not include genetic testing. Adding genetic testing of GJB2-R143W mutation for the population, prenatal and neonatal stages may lead to guiding genetic counseling for individual and couples, early detection of HI for at-risk infants, and improvement of medical management, including speech therapy and audiologic intervention, as well as provision of the needed social service to enhance parenting and education for children with HI. Based on published research on the genetics of HI in Ghana, we recommend that the UNHS program should include genetic screening for the GJB2-R143W gene variant for newborns who did not pass the initial UNHS tests. This will require an upgrade and resourcing of public health infrastructures to implement the rapid and cost-effective GJB2-R143W testing, followed by appropriate genetic and anticipatory guidance for medical care.

Rising prices for new, transformative therapies are challenging health systems around the world, leading many payers and providers to begin rationing access to treatments, even in the countries that have been most resistant to doing so. This is the case for direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV). However, little attention has been paid to the increasing role that human genetics might play in rationing decisions. Researchers have already proposed that genetic markers associated with spontaneous HCV clearance could be used to restrict DAA access for some patients, although treatment would be medically beneficial for those patients. Would such forms of rationing present a form of genetic discrimination? And what of the public health implications of these approaches? Here we present an ethical analysis of such proposals for "precision rationing" and raise 4 key areas of concern. We argue that ethical issues arising in this area are not substantively different from the pressing ethical issues regarding rationing and discrimination more broadly, but provide important impetus for motivating broad public debate to find ethically sound ways of managing genomics and new expensive medications.

Obesity is commonly associated with immunometabolic dysfunctions. Activation of inflammatory macrophages through TLR4 (toll-like receptor 4) and the anti-inflammatory impact of exercise have been and are the new concerns among researchers. A new short-term combined high-intensity interval training was proposed in young sedentary overweight/obese females. All participants were allocated to one of two groups: the exercise group (EG) and the control group (CG), where the EG participated in a 2-week combined training and the CG continued its routine lifestyle. Gene expression levels of TLR4, NF-κB(nuclear factor κB), and IRF3 (interferon regulatory factor 3) were assessed by real-time PCR. Physiological, anthropometric, and biomedical metabolic factors were assessed. The between-group comparisons indicated a tendency to a decrease in NF-κB gene expression in the EG. The IRF3 levels were not significantly changed compared to CG and the levels before training. Fasting glucose levels and β-cell function revealed a significant improvement in EG. These findings indicated that this protocol decreased meta-inflammation levels and improved insulin resistance independent of body composition changes. Consequently, combined training may be recommended as a therapeutic approach in metabolic diseases.

Background: In human genetics research, it has become common practice for researchers to consider returning genetic information to participants who wish to receive it. Research participants in lower-resource settings may have barriers or competing interests that reduce the benefit or relevance of such information. Thus, the decision to return genetic information in these settings may involve special considerations of participants' interests and preferences. In this project, our goal was to assess Bangladeshi research participants' attitudes towards receiving information regarding genetic susceptibility to the effects of consuming arsenic-contaminated drinking water, a serious environmental health concern in Bangladesh and other countries.

Methods: We administered a short questionnaire to 200 individuals participating in the Health Effects of Arsenic Longitudinal Study. Associations between survey responses and participant characteristics were estimated using logistic regression.

Results: Overall, 100% of our participants were interested in receiving information regarding their genetic susceptibility to arsenic toxicities, and 91% indicated that being at increased genetic risk would motivate them to make efforts to reduce their exposure. Lower levels of education showed evidence of association with less concern regarding the health effects of arsenic and lower levels of motivation to reduce exposure in response to genetic information.

Conclusions: Research participants in this low-resource setting appeared interested in receiving information on their genetic susceptibility to arsenic toxicity and motivated to reduce exposure in response to such information. Additional research is needed to understand how best to communicate genetic information in this population and to assess the impact of such information on individuals' behaviors and health.