Public Health Genomics最新文献

Background: Human inbreeding is a sociobiological puzzle. Despite widespread knowledge of its potential for genetic disorders, human consanguinity remains surprisingly common. The current reasons explaining its continued persistence in today's modern world have major shortcomings.

Summary: We propose that the Neolithic Agrarian revolution modified the structure of populations. It increased competition for the limited resources in which a larger group had better chances of survival. As a result, small, drifting, socially open bands of hunter-gatherers were transformed into bigger, less mobile, and more powerful kinship groups (tribes). In this transformation, a central role was played by human trust - an aspect of human altruism which is a universal sociobiological principle of behavior. Altruism (and trust) is an essential premise of social contracts such as economic cooperation, marriage arrangement, and creation of alliances between people. In kinship groups, human trust is limited to kin, so tribes remain small, economically poor, and consanguineous due to lack of nonkin mates. The expanding of trust from kin to that of nonbiological relatives increases the size of human groups, fosters economic wealth, and decreases the rate of consanguinity. Key Messages: The lack of nonkin altruism leads to: (a) poverty (due to poor economic cooperation with nonkin), (b) maintaining small group size, and (c) inbreeding.

Introduction: The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.

Methods: Individuals with CP and their family members were invited to participate in the web-based survey via email (NSW/ACT CP Register) or via posts on social media by Cerebral Palsy Alliance, CP Research Network, and CP Now. Survey responses included yes/no/unsure, multiple choices, and Likert scales. Fisher's exact and χ2 tests were used to assess if there were significant differences between subgroups.

Results: Individuals with CP and their families (n = 145) were willing to participate in genomics research (68%), data sharing (82%), and biobanking efforts (75%). This willingness to participate was associated with completion of tertiary education, previous genetic testing experience, overall higher genomic awareness, and trust in international researchers. The survey respondents also expressed ongoing communication and diverse information needs regarding the use of their samples and data. Major concerns were associated with privacy and data security.

Discussion: The success of genomic research and international data sharing efforts in CP are contingent upon broad support and recruitment. Ongoing consultation and engagement of individuals with CP and their families will facilitate trust and promote increased awareness of genomics in CP that may in turn maximize participant uptake and recruitment.

Introduction: Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved. Health provider awareness, knowledge, and perceived importance are important determinants of the utilization of genomic applications.

Methods: We evaluated the readiness of primary care providers at a Federally Qualified Health Center, the Community Health Center, Inc. (CHCI) for delivering genetic and genomic testing to underserved populations. Online survey questions focused on providers' education and training in basic and clinical genetics, familiarity with current genetic tests, and needs for incorporating genetics and genomics into their current practice.

Results: Fifty of 77 (65%) primary care providers responded to the survey. Less than half received any training in basic or clinical genetics (40%), were familiar with specific genetic tests (36%), or felt confident with collecting family health history (44%), and 70% believed patients would benefit from genetic testing.

Conclusion: Despite knowledge gaps, respondents recognized the value and need to bring these services to their patients, though would like more education on applying genetics and genomics into their practice, and more training about discussing risk factors associated with race or ethnicity. We provide further evidence of the need for educational resources and standardized guidelines for providers caring for underserved populations to optimize appropriate use and referral of genetic and genomic services and to reduce disparities in care.

Introduction: The development of a family history (FH) questionnaire (FHQ) provides an insight into a patient's familiarity of a trait and helps to identify individuals at increased risk of disease. A critical aspect of developing a new tool is exploring users' experience.

Objective: The objective of this study was to examine users' experience, obstacles and challenges, and their views and concerns in the applicability of a new tool for determining genetic risk in Slovenia's primary care.

Methods: We used a qualitative approach. The participants completed a risk assessment software questionnaire that calculates users' likelihood of developing familial diseases. Audio-taped semi-structured telephone interviews were conducted to evaluate their experience. There were 21 participants, and analyses using the constant comparative method were employed.

Results: We identified 3 main themes: obstacles/key issues, suggestions for improvements, and coping. The participants were poorly satisfied with the clarity of instructions, technical usability problems, and issues with the entry of relatives' data. They expressed satisfaction with some of the characteristics of the FHQ (e.g., straightforward and friendly format, easy entry, and comprehension). They suggested simpler language, that the disease risk should be targeted toward the disease, that the FHQ should include patient-specific recommendations, and that it should be part of the electronic medical records. When discussing what would they do with the results of the FHQ, the participants used different coping strategies: active (e.g., seeking information) or passive (e.g., avoidance).

Discussion/conclusion: User experience was shown to be a synthesis of obstacles, overcoming them with suggestions for improvements, and exploration of various coping mechanisms that may emerge from dealing with the stressor of "being at risk."

Purpose: The aim of the study was to characterize experiences of Latino participants receiving genomic screening results.

Methods: Participants were recruited at a federally qualified health center in the USA. In-person, semi-structured interviews were conducted in either Spanish or English by a bilingual, bicultural interviewer. Questions focused on motivations for pursuing genomic sequencing, concerns about receiving genomic screening results, and perceived benefits of receiving genomic information. Interviews were audio-recorded, transcribed, and translated.

Results: Fifty individuals completed an interview; 39 were conducted in Spanish. Participants described mixed motivations for pursuing genomic screening. Participants viewed the benefits of genomic screening in relation to not only their personal health but to the health of their families and their communities. Participants tended to have few concerns about genomic screening. Those concerns related to potential loss of privacy, misuses of genomic information, and the possibility of receiving distressing results. Some participants had misunderstandings about the scope of the test and the potential implications of their results. Most felt it was better to know about a genetic predisposition to disease than to remain uninformed. Participants felt that genomic screening was worthwhile.

Discussion: This is one of the first studies to examine the experiences of Latino individuals receiving genomic screening results. Our results suggest that many Latino patients in the US see value in genomic screening and have limited concerns about its potential to cause harm. These results inform ongoing efforts to increase the availability of genomic medicine to underrepresented populations and add to our understanding of sociocultural drivers in the adoption of precision medicine.

Introduction: Discussion of cancer genetic testing with health-care providers (HCPs) is necessary to undergo testing to inform cancer risk assessment and prevention. Given the rapid evolution in genetic testing practice in oncology, we describe the current landscape of population-level cancer genetic testing behaviors.

Methods: A questionnaire including items regarding discussion of cancer genetic testing with HCPs was administered to a nonprobability sample (N = 2,029) of the Texas population.

Results: Overall, 11% of respondents discussed cancer genetic testing with HCPs. In multivariable analysis, discussion was significantly related to having a personal history of breast/ovarian/colon cancer (OR = 11.57, 95% CI = 5.34-25.03), personal history of other cancer (OR = 3.18, 95% CI = 1.69-5.97), and health information-seeking behaviors (OR = 1.73, 95% CI = 1.12-2.66). Surprisingly, respondents who believed that inherited predispositions in addition to other modifiable risk factors cause cancer were less likely to discuss genetic testing compared to those who did not believe that inherited cancer predispositions cause cancer (OR = 0.54, 95% CI = 0.36-0.79).

Discussion: The high discussion rate may be attributed to increased public awareness of genetic testing and adoption of more inclusive clinical genetic testing guidelines. The findings suggest that efforts to increase public awareness of the utility of genetic testing on personalized cancer risk assessment and cancer prevention are needed.

Background: The aim of the study was to investigate the role of the genetic variation of glutathione S-transferase M1 (GSTM1) in the development of ovarian endometriosis and endometriosis-related primary infertility risk.

Methods: This case-control study included 564 women with ovarian endometriosis and 576 normal women in the control group in northern China. The polymorphism of GSTM1 was genotyped by polymerase chain reaction (PCR)/ligase detection reaction method. To assess the biological significance of polymorphisms, the level of GSTM1 mRNA expression in patients' endometrial tissues with different genotypes was detected by quantitative real-time PCR (qRT-PCR).

Results: Compared with the positive genotype, the null genotype of GSTM1 was associated with the risk of developing ovarian endometriosis (OR = 1.29, 95% CI = 1.02-1.62). Further analysis showed that patients with a null genotype also had a significantly higher risk of primary infertility than patients with positive genotypes (OR = 1.59, 95% CI = 1.01-2.49). In addition, we found that GSTM1 mRNA expression was present in the endometrial tissue of all patients, but the expression level of patients with a positive genotype was nearly 10 times higher than that of patients with a negative genotype.

Conclusion: Our results suggest that the GSTM1 polymorphism is not only related to the genetic susceptibility to ovarian endometriosis but also a potential molecular marker of primary infertility in patients with ovarian endometriosis.

Aims: The goal of this project was to better understand the motivating and discouraging factors toward genetic research and biobank programs in patients with bipolar disorder, particularly across gender and racial identities.

Methods: A survey (n = 63) of adults diagnosed with bipolar disorder was conducted at the general psychiatric inpatient unit and outpatient clinic at the University of Mississippi Medical Center. Participants were asked to rate on a Likert scale their attitudes toward medical research generally, mental health research specifically, and willingness to participate in a bipolar DNA biobank. Last, they were asked to endorse motivating factors or concerns for their attitude toward participation.

Results: Neither attitudes toward research nor willingness to participate in a bipolar biobank differed across gender, age, or education level, but Black/African American participants were statistically significantly less likely to endorse a willingness to participate in a biobank compared to White participants. As observed in previous work, Black/African American participants were significantly more likely to endorse concerns regarding violations of trust, privacy, or autonomy. However, while there were no significant differences in discouraging factors among individuals who indicated an opposition to participating in a biobank compared to those who indicated support, there was a significant decrease in support of motivating factors, including increasing knowledge, personal benefit, and duty to community, for those not interested in participating.

Conclusions: Black/African American participants with bipolar disorder were more likely to express concerns about DNA and biobank research. But while race was a contributing factor to support or opposition to biobanking for bipolar disorder research, more salient was insufficient positive motivation. These results highlight the need to emphasize contemporary safeguards on DNA research and biobanking as an ethical duty and to identify the need for community-based educational interventions to promote a greater understanding of the positive benefits to motivate increased research participation.