Single nucleotide polymorphisms and sickle cell disease-related pain: a systematic review

BackgroundScientists have speculated genetic variants may contribute to an individual's unique pain experience. Although research exists regarding the relationship between single nucleotide polymorphisms and sickle cell disease-related pain, this literature has not been synthesized to help inform future precision health research for sickle cell disease-related pain. Our primary aim of this systematic review was to synthesize the current state of scientific literature regarding single nucleotide polymorphisms and their association with sickle cell disease-related pain.MethodsUsing the Prisma guidelines, we conducted our search between December 2021–April 2022. We searched PubMed, Web of Science, CINAHL, and Embase databases (1998–2022) and selected all peer-reviewed articles that included reports of associations between single nucleotide polymorphisms and sickle cell disease-related pain outcomes.ResultsOur search yielded 215 articles, 80 of which were duplicates, and after two reviewers (GG, JD) independently screened the 135 non-duplicate articles, we retained 22 articles that met the study criteria. The synthesis of internationally generated evidence revealed that this scientific area remains predominantly exploratory in nature, with only three studies reporting sufficient power for genetic association. Sampling varied across studies with a range of children to older adults with SCD. All of the included articles (n = 22) examined acute pain, while only nine of those studies also examined chronic pain.ConclusionCurrently, the evidence implicating genetic variation contributing to acute and chronic sickle cell disease-related pain is characterized by modestly powered candidate-gene studies using rigorous SCD-pain outcomes. Effect sizes and directions vary across studies and are valuable for informing the design of future studies. Further research is needed to replicate these associations and extend findings with hypothesis-driven research to inform precision health research

Intersection of COVID-19, Cancer, and Racial Health Disparities

In this article, the authors explore the intersection between the COVID-19 pandemic with cancer and the health disparities experienced by African Americans. Using extant literature and contemporaneous data, they point out how overlooking the intersections of this triad could lead to the exacerbation of existing disparities for cancer patients based on race and ethnicity. They suggest best practices to balance cancer treatment and survivorship with increasing the potential COVID-19 exposures for patients, families, and health care workers. Drawing upon their analysis, the authors offer a list of recommendations and strategies for system level responses that are designed to foster practice and policy for cancer care health care equity and relate to cancer care equity, infection prevention and control,  and cancer pain management, that may reduce disparities among African Americans

Hospitalized patients quantify verbal pain intensity descriptors: methodological issues and values for 26 descriptors.

Patients often tell others about their pain using their own verbal descriptors of pain intensity, but the meaning of this pain language is not universally evident, which could contribute to misinterpretation about pain severity. The study purpose was to discover the intensity values of verbal pain intensity descriptors. The 248 randomly selected inpatients used a visual analogue scale (VAS) to assign a value to each of 26 pain intensity descriptors. Each participant completed 36 randomly ordered VASs, 10 of which were replications. Except for descriptors with medians close to 0 or 100 mm, there was large, across-person variability for the descriptors. For example, medians ± SD for some exemplar descriptors were: no pain 0.7±2.4; mild 16.2±12.2; discomforting 31.3±22.2; distressing 55.3±24; horrible 87.8±13.6; and excruciating 94.6±9.3. Test-retest reliability indicated small within-person variability on scores assigned to each descriptor. Thirteen descriptors showed some statistically significant but rather small effects of presentation order. Findings contribute estimates for the magnitude of pain represented by each of the 26 descriptors. Clinicians, text data miners, and researchers should consider these values as they interpret the meaning of the descriptors that they hear in daily practice or research settings or that they find in electronic health records, email messages, or social media posts. Despite the wide variability in the magnitude of each descriptor, findings provide insights about the intensity of pain when individuals use verbal pain intensity descriptors in conversations, social media, or clinical encounters

Vasopressin SNP pain factors and stress in sickle cell disease

Purpose: Frequencies of single nucleotide polymorphisms (SNPs) from pain related candidate genes are available for individuals with sickle cell disease (SCD). One of those genes, the arginine vasopressin receptor 1A gene (AVPR1A) and one of its SNPs, rs10877969, has been associated with pain and disability in other pain populations. In patients with SCD, clinical factors such as pain and stress have been associated with increased health care utilization, but it is not known if the presence of the AVPR1A SNP plays a role in this observation. The study purpose was to explore the relationships between rs10877969 and self-reported pain, stress, and acute care utilization events among individuals with SCD. Methods: In a cross-sectional investigation of outpatients with SCD, participants completed PAINReportIt®, a computerized pain measure, to describe their pain experience and contributed blood or saliva samples for genetic analysis. We extracted emergency department and acute care utilization from medical records. Results: The SNP genotype frequencies (%) for this sample were CC 30 (28%), CT 44 (41%), TT 33 (31%). Acute care utilization and stress as an aggravator of pain were significantly associated with the rs10877969 genotype (p = .02 and p = .002, respectively). The CT genotype had the highest mean utilization and CC genotype was associated with not citing stress as a pain aggravator. Chronic pain was not associated with rs10877969 (p = .41). Conclusion: This study shows that rs10877969 is related to indicators of stress and acute pain. Further research is recommended with other measures of stress and acute pain.</p

Vasopressin SNP pain factors and stress in sickle cell disease.

PurposeFrequencies of single nucleotide polymorphisms (SNPs) from pain related candidate genes are available for individuals with sickle cell disease (SCD). One of those genes, the arginine vasopressin receptor 1A gene (AVPR1A) and one of its SNPs, rs10877969, has been associated with pain and disability in other pain populations. In patients with SCD, clinical factors such as pain and stress have been associated with increased health care utilization, but it is not known if the presence of the AVPR1A SNP plays a role in this observation. The study purpose was to explore the relationships between rs10877969 and self-reported pain, stress, and acute care utilization events among individuals with SCD.MethodsIn a cross-sectional investigation of outpatients with SCD, participants completed PAINReportIt®, a computerized pain measure, to describe their pain experience and contributed blood or saliva samples for genetic analysis. We extracted emergency department and acute care utilization from medical records.ResultsThe SNP genotype frequencies (%) for this sample were CC 30 (28%), CT 44 (41%), TT 33 (31%). Acute care utilization and stress as an aggravator of pain were significantly associated with the rs10877969 genotype (p = .02 and p = .002, respectively). The CT genotype had the highest mean utilization and CC genotype was associated with not citing stress as a pain aggravator. Chronic pain was not associated with rs10877969 (p = .41).ConclusionThis study shows that rs10877969 is related to indicators of stress and acute pain. Further research is recommended with other measures of stress and acute pain

CHOICES for sickle cell reproductive health: A protocol of a randomized preconception intervention model for a single gene disorder.

Our long-term goal is to foster genetically informed reproductive health knowledge and behaviors among young adults with sickle cell disease (SCD) or sickle cell trait (SCT) with a web-based, tailored, multimedia intervention called CHOICES. CHOICES is designed to help young adults with SCD or SCT preconception to gain knowledge of genetic inheritance, specify their reproductive health intentions (their parenting plan), and engage in reproductive health behaviors concordant with their parenting plan. In a previous study, we found high acceptability of both the e-Book (usual care control) and CHOICES interventions. We also found sustained (24 months), significant effects on knowledge but not on behavior, most likely because half of the recruited group was not at risk for their children inheriting SCD. Hence, we propose an adequately powered randomized controlled trial with the CHOICES intervention and an e-Book control to compare their effects on genetic inheritance knowledge and at-risk reproductive health behaviors (immediate posttest and at 6, 12, 18, and 24 months). We will conduct subgroup analyses to provide insight into the baseline knowledge and behavior as well as the intervention effects in different demographic or acceptability groups. Given the scalability and low cost of CHOICES, if proved to be effective, it can reach the affected population at low cost

Developing the Florida Academic Cancer Center Alliance Health Disparities Common Measure: The Florida Health and Ancestry Survey.

Our specific aim was to develop and assess the consensus-based validity of common measures for understanding health behaviors and ancestry in Florida's population subgroups and establish the feasibility of wide-scale implementation of the measures and biospecimen collection within three cancer centers' catchment areas. Using the National Cancer Institute's Grid-Enabled Measures web-based platform and an iterative process, we developed the Florida Health and Ancestry Survey (FHAS). We then used three sampling approaches to implement the FHAS: community-engaged, panel respondent, and random digit dialing (RDD). We asked a subset of participants to provide a saliva sample for future validation of subjective ancestry report with DNA-derived ancestry markers. This process supported the FHAS content validity. As an indicator of feasibility, the goals for completed surveys by sampling approach were met for two of the three cancer centers, yielding a total of 1438 completed surveys. The RDD approach produced the most representative sample. The panel sampling approach produced inadequate representation of older individuals and males. The community-engaged approach along with social media recruitment produced extreme underrepresentation only for males. Two of the cancer centers mailed biospecimen kits, whereas one did not due to resource constraints. On average, the community engaged approach was more productive in obtaining returned biospecimen samples (80%) than the panel approach (48%). We successfully developed and implemented the FHAS as a common measure to show its feasibility for understanding cancer health disparities in Florida. We identified sampling approach successes and challenges to obtaining biospecimens for ancestry research.</AbstractText