scholarly journals Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results

2020 ◽  
Vol 10 (2) ◽  
pp. 29 ◽  
Author(s):  
Tara Schmidlen ◽  
Amy Sturm ◽  
Laura Scheinfeldt
Keyword(s):  
Genetic Counseling ◽  
Personalized Medicine ◽  
Genetic Risk ◽  
Genetic Counselor ◽  
Patient Needs ◽  
Test Results ◽  
Participant Engagement ◽  
Disease Experience ◽  
A Prospective Study ◽  
Study Participants

As pharmacogenomic (PGx) use in healthcare increases, a better understanding of patient needs will be necessary to guide PGx result delivery. The Coriell Personalized Medicine Collaborative (CPMC) is a prospective study investigating the utility of personalized medicine. Participants received online genetic risk reports for 27 potentially actionable complex diseases and 7 drug–gene pairs and could request free, telephone-based genetic counseling (GC). To explore the needs of individuals receiving PGx results, we conducted a retrospective qualitative review of inquiries from CPMC participants who requested counseling from March 2009 to February 2017. Eighty out of 690 (12%) total GC inquiries were focused on the discussion of PGx results, and six salient themes emerged: “general help”, “issues with drugs”, “relevant disease experience”, “what do I do now?”, “sharing results”, and “other drugs”. The number of reported medications with a corresponding PGx result and participant engagement were significantly associated with PGx GC requests (p < 0.01 and p < 0.02, respectively). Our work illustrates a range of questions raised by study participants receiving PGx test results, most of which were addressed by a genetic counselor with few requiring referrals to prescribing providers or pharmacists. These results further support a role for genetic counselors in the team-based approach to optimal PGx result delivery.

scholarly journals “They’re Not Going to Do Nothing for Me”: Research Participants’ Attitudes towards Elective Genetic Counseling

2020 ◽  
Vol 10 (4) ◽  
pp. 143
Author(s):  
Erica J. Sutton ◽  
Annika T. Beck ◽  
Kylie O. Gamm ◽  
Jennifer B. McCormick ◽  
Iftikhar J. Kullo ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Counselor ◽  
Counseling Services ◽  
Genomic Sequencing ◽  
Research Participants ◽  
Potential Value ◽  
Genomic Screening ◽  
Study Participants ◽  
Genetic Counseling Services

As applications of genomic sequencing have expanded, offering genetic counseling support to all patients is arguably no longer practical. Additionally, whether individuals desire and value genetic counseling services for genomic screening is unclear. We offered elective genetic counseling to 5110 individuals prior to undergoing sequencing and 2310 participants who received neutral results to assess demand. A total of 0.2% of the study participants accessed genetic counseling services prior to sequencing, and 0.3% reached out after receiving neutral results. We later conducted 50 interviews with participants to understand why they did not access these services. Many interviewees did not recall the availability of genetic counseling and were unfamiliar with the profession. Interviewees described not needing counseling before sequencing because they understood the study and felt that they could cope with any result. Counseling was considered equally unnecessary after learning neutral results. Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.

Predictors of Purchasing a Hearing Aid After an Evaluation Period: A Prospective Study in Dutch Older Hearing Aid Candidates

2019 ◽  
Vol 28 (3S) ◽  
pp. 802-805 ◽  
Author(s):  
Marieke Pronk ◽  
Janine F. J. Meijerink ◽  
Sophia E. Kramer ◽  
Martijn W. Heymans ◽  
Jana Besser
Keyword(s):  
Help Seeking ◽  
Hearing Aid ◽  
Model Performance ◽  
Area Under The Curve ◽  
Secondary Data ◽  
Support Program ◽  
Evaluation Period ◽  
A Prospective Study ◽  
Study Participants ◽  
Baseline Covariates

Purpose The current study aimed to identify factors that distinguish between older (50+ years) hearing aid (HA) candidates who do and do not purchase HAs after having gone through an HA evaluation period (HAEP). Method Secondary data analysis of the SUpport PRogram trial was performed ( n = 267 older, 1st-time HA candidates). All SUpport PRogram participants started an HAEP shortly after study enrollment. Decision to purchase an HA by the end of the HAEP was the outcome of interest of the current study. Participants' baseline covariates (22 in total) were included as candidate predictors. Multivariable logistic regression modeling (backward selection and reclassification tables) was used. Results Of all candidate predictors, only pure-tone average (average of 1, 2, and 4 kHz) hearing loss emerged as a significant predictor (odds ratio = 1.03, 95% confidence interval [1.03, 1.17]). Model performance was weak (Nagelkerke R 2 = .04, area under the curve = 0.61). Conclusions These data suggest that, once HA candidates have decided to enter an HAEP, factors measured early in the help-seeking journey do not predict well who will and will not purchase an HA. Instead, factors that act during the HAEP may hold this predictive value. This should be examined.

scholarly journals The GGLEAM Study: Understanding Glaucoma in the Ohio Amish

2021 ◽  
Vol 18 (4) ◽  
pp. 1551
Author(s):  
Andrea R. Waksmunski ◽  
Yeunjoo E. Song ◽  
Tyler G. Kinzy ◽  
Reneé A. Laux ◽  
Jane Sewell ◽  
...  
Keyword(s):  
Risk Factors ◽  
General Population ◽  
Genetic Risk ◽  
Genetic Architecture ◽  
Environmental Heterogeneity ◽  
Holmes County ◽  
The World ◽  
Study Participants ◽  
Enrollment Process ◽  
Genealogy Database

Glaucoma leads to millions of cases of visual impairment and blindness around the world. Its susceptibility is shaped by both environmental and genetic risk factors. Although over 120 risk loci have been identified for glaucoma, a large portion of its heritability is still unexplained. Here we describe the foundation of the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) study to investigate the genetic architecture of glaucoma in the Ohio Amish, which exhibits lower genetic and environmental heterogeneity compared to the general population. To date, we have enrolled 81 Amish individuals in our study from Holmes County, Ohio. As a part of our enrollment process, 62 GGLEAM study participants (42 glaucoma-affected and 20 unaffected individuals) received comprehensive eye examinations and glaucoma evaluations. Using the data from the Anabaptist Genealogy Database, we found that 80 of the GGLEAM study participants were related to one another through a large, multigenerational pedigree containing 1586 people. We plan to integrate the health and kinship data obtained for the GGLEAM study to interrogate glaucoma genetics and pathophysiology in this unique population.

Parents' Understanding of Genetic Risk Data in Genetic Counseling

JAMA ◽  
1978 ◽  
Vol 240 (24) ◽  
pp. 2631
Author(s):  
David W. Garrison
Keyword(s):  
Genetic Counseling ◽  
Genetic Risk

scholarly journals Facets of Conscientiousness and risk of dementia

2017 ◽  
Vol 48 (6) ◽  
pp. 974-982 ◽  
Author(s):  
A. R. Sutin ◽  
Y. Stephan ◽  
A. Terracciano
Keyword(s):  
Risk Factors ◽  
Cognitive Impairment ◽  
Personality Assessment ◽  
Genetic Risk ◽  
Cox Regression ◽  
Genetic Risk Factors ◽  
Self Control ◽  
Standard Deviation Increase ◽  
Study Participants

BackgroundMultiple studies have found Conscientiousness to be protective against dementia. The purpose of this study is to identify which specific aspects, or facets, of Conscientiousness are most protective against cognitive impairment and whether these associations are moderated by demographic factors and/or genetic risk.MethodsHealth and Retirement Study participants were selected for analysis if they completed the facets of Conscientiousness measure, scored in the range of normal cognitive functioning at the baseline personality assessment, and had at least one follow-up assessment of cognition over the up to 6-year follow-up (N = 11 181). Cox regression was used to test for risk of incident dementia and risk of incident cognitive impairment not dementia (CIND).ResultsOver the follow-up, 278 participants developed dementia and 2186 participants developed CIND. The facet of responsibility had the strongest and most consistent association with dementia risk: every standard deviation increase in this facet was associated with a nearly 35% decreased risk of dementia; self-control and industriousness were also protective. Associations were generally similar when controlling for clinical, behavioral, and genetic risk factors. These three facets were also independent predictors of decreased risk of CIND.ConclusionsThe present research indicates that individuals who see themselves as responsible, able to control their behavior, and hard workers are less likely to develop CIND or dementia and that these associations persist after accounting for some common clinical, behavioral, and genetic risk factors.

scholarly journals Depression, Hematologic Parameters, and Blood Levels of Vitamin B12 in Patients With Laryngopharyngeal Reflux Under Use of Proton Pump Inhibitors

2019 ◽  
Vol 12 ◽  
pp. 117955061982868 ◽  
Author(s):  
Rebecca Heidrich Thoen Ribeiro ◽  
Fernando Ambros Ribeiro ◽  
Romeu Paulo Martins Silva ◽  
Miguel Júnior Sordi Bortolini ◽  
Mario da Silva Garrote-Filho ◽  
...  
Keyword(s):  
Proton Pump ◽  
Complete Blood Count ◽  
Laryngopharyngeal Reflux ◽  
Epidemiologic Studies ◽  
Blood Levels ◽  
Vitamin B ◽  
Mean Corpuscular Hemoglobin ◽  
Before And After ◽  
A Prospective Study ◽  
Study Participants

Objective: The objective of this study was to evaluate and correlate hematologic indices, vitamin B12 levels, and depression in patients with suspected laryngopharyngeal reflux (LPR) treated with proton pump inhibitor (PPI). Methods: This was a prospective study with a population (n = 23) consisted of patients with suspected LPR and treated with 2 daily doses of Omeprazole 40 mg (80 mg or full dose). The study volunteers performed a complete blood count and vitamin B12 dosage before and after 3 and 6 months of treatment, as well as depression screening using the Center of Epidemiologic Studies-Depression (CES-D) questionnaire before and after 6 months of treatment. Scores greater than 16 were considered as suggestive of depression. Results: The mean score on the CES-D scale of study participants at baseline significantly decreased after 6 months of treatment. A significant decrease was observed in the red blood cells count (RBC) after 6 months in relation to 3 months. Significant increases in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were observed from 3 months to 6 months in this study. Vitamin B12 levels increased significantly between baseline and after 6 months of treatment. Conclusion: Decreased scores on the CES-D scale were associated with increased MCV values, with no association with vitamin B12 levels. However, vitamin B12 levels also increased significantly after 6 months of treatment with PPI.

scholarly journals Personalized Reference Intervals in Laboratory Medicine: A New Model Based on Within-Subject Biological Variation

2020 ◽  
Author(s):  
Abdurrahman Coşkun ◽  
Sverre Sandberg ◽  
Ibrahim Unsal ◽  
Coskun Cavusoglu ◽  
Mustafa Serteser ◽  
...  
Keyword(s):  
Steady State ◽  
Personalized Medicine ◽  
Clinical Chemistry ◽  
Reference Interval ◽  
Reference Intervals ◽  
Biological Variation ◽  
Test Results ◽  
Steady State Condition ◽  
Laboratory Test Results ◽  
Measurement Results

Abstract Background The concept of personalized medicine has received widespread attention in the last decade. However, personalized medicine depends on correct diagnosis and monitoring of patients, for which personalized reference intervals for laboratory tests may be beneficial. In this study, we propose a simple model to generate personalized reference intervals based on historical, previously analyzed results, and data on analytical and within-subject biological variation. Methods A model using estimates of analytical and within-subject biological variation and previous test results was developed. We modeled the effect of adding an increasing number of measurement results on the estimation of the personal reference interval. We then used laboratory test results from 784 adult patients (&gt;18 years) considered to be in a steady-state condition to calculate personalized reference intervals for 27 commonly requested clinical chemistry and hematology measurands. Results Increasing the number of measurements had little impact on the total variation around the true homeostatic set point and using ≥3 previous measurement results delivered robust personalized reference intervals. The personalized reference intervals of the study participants were different from one another and, as expected, located within the common reference interval. However, in general they made up only a small proportion of the population-based reference interval. Conclusions Our study shows that, if using results from patients in steady state, only a few previous test results and reliable estimates of within-subject biological variation are required to calculate personalized reference intervals. This may be highly valuable for diagnosing patients as well as for follow-up and treatment.

Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want?

1998 ◽  
Vol 16 (1) ◽  
pp. 133-138 ◽  
Author(s):  
J Audrain ◽  
B Rimer ◽  
D Cella ◽  
J Garber ◽  
B N Peshkin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Cancer Susceptibility ◽  
Genetic Counselor ◽  
Care Physician ◽  
Counseling And Testing ◽  
History Of ◽  
Optimal Approach ◽  
Medical Recommendations

PURPOSE To assess preferences for the content and process of genetic counseling and testing for breast-ovarian cancer susceptibility among women at high risk for breast cancer. METHODS Ninety-eight healthy women who had a family history of breast cancer in at least two first-degree relatives participated in a structured telephone survey that evaluated preferences for type of provider and the content and process of pretest education and posttest genetic counseling. RESULTS Forty-two percent of women preferred that pretest education be delivered by a genetic counselor, while 22% preferred an oncologist. This preference was positively associated with a desire to discuss psychosocial issues during the session (P = .001). For posttest counseling, 38% of women preferred an oncologist, while 20% preferred a genetic counselor. However, women who desired supportive counseling during this session were significantly more likely to prefer a genetic counselor to an oncologist (P = .02). Fewer women wished to see a primary care physician or gynecologist for pretest education (11%) or posttest counseling (22%). With regard to the counseling process, 82% of women wished to self-refer for genetic counseling, but 63% desired advice and recommendations about whether to be tested. CONCLUSION When feasible, the optimal approach may be for oncologists to work with genetic counselors to provide pretest education and medical recommendations. Elicitation of patients' preferences may be useful to determine the level of counseling services needed.

scholarly journals A prospective study of consecutive emergency medical admissions to compare a novel automated computer-aided mortality risk score and clinical judgement of patient mortality risk

BMJ Open ◽  
2019 ◽  
Vol 9 (6) ◽  
pp. e027741 ◽  
Author(s):  
Muhammad Faisal ◽  
Binish Khatoon ◽  
Andy Scally ◽  
Donald Richardson ◽  
Sally Irwin ◽  
...  
Keyword(s):  
Hospital Mortality ◽  
Prospective Study ◽  
Mortality Risk ◽  
Blood Test ◽  
Test Results ◽  
Risk Of Death ◽  
Emergency Medical ◽  
C Statistic ◽  
Computer Aided ◽  
A Prospective Study

ObjectivesTo compare the performance of a validated automatic computer-aided risk of mortality (CARM) score versus medical judgement in predicting the risk of in-hospital mortality for patients following emergency medical admission.DesignA prospective study.SettingConsecutive emergency medical admissions in York hospital.ParticipantsElderly medical admissions in one ward were assigned a risk of death at the first post-take ward round by consultant staff over a 2-week period. The consultant medical staff used the same variables to assign a risk of death to the patient as the CARM (age, sex, National Early Warning Score and blood test results) but also had access to the clinical history, examination findings and any immediately available investigations such as ECGs. The performance of the CARM versus consultant medical judgement was compared using the c-statistic and the positive predictive value (PPV).ResultsThe in-hospital mortality was 31.8% (130/409). For patients with complete blood test results, the c-statistic for CARM was 0.75 (95% CI: 0.69 to 0.81) versus 0.72 (95% CI: 0.66 to 0.78) for medical judgements (p=0.28). For patients with at least one missing blood test result, the c-statistics were similar (medical judgements 0.70 (95% CI: 0.60 to 0.81) vs CARM 0.70 (95% CI: 0.59 to 0.80)). At a 10% mortality risk, the PPV for CARM was higher than medical judgements in patients with complete blood test results, 62.0% (95% CI: 51.2 to 71.9) versus 49.2% (95% CI: 39.8 to 58.5) but not when blood test results were missing, 50.0% (95% CI: 24.7 to 75.3) versus 53.3% (95% CI: 34.3 to 71.7).ConclusionsCARM is comparable with medical judgements in discriminating in-hospital mortality following emergency admission to an elderly care ward. CARM may have a promising role in supporting medical judgements in determining the patient’s risk of death in hospital. Further evaluation of CARM in routine practice is required.

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