scholarly journals Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results

2019 ◽  
Vol 170 (9) ◽  
pp. 643 ◽  
Author(s):  
Michael G. Artin ◽  
Deborah Stiles ◽  
Krzysztof Kiryluk ◽  
Wendy K. Chung
Keyword(s):  
Precision Medicine ◽  
Genetic Test ◽  
Test Results ◽  
Direct To Consumer ◽  
Genetic Test Results

scholarly journals The General Public’s Understanding and Perception of Direct-to-Consumer Genetic Test Results

2012 ◽  
Vol 15 (1) ◽  
pp. 11-21 ◽  
Author(s):  
J.W. Leighton ◽  
K. Valverde ◽  
B.A. Bernhardt
Keyword(s):  
Genetic Test ◽  
Test Results ◽  
Direct To Consumer ◽  
Genetic Test Results

scholarly journals How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study

2015 ◽  
Vol 18 (4) ◽  
pp. 216-224 ◽  
Author(s):  
Jenny E. Ostergren ◽  
Michele C. Gornick ◽  
Deanna Alexis Carere ◽  
Sarah S. Kalia ◽  
Wendy R. Uhlmann ◽  
...  
Keyword(s):  
Genetic Test ◽  
Genomic Testing ◽  
Test Results ◽  
Personal Genomics ◽  
Personal Genomic ◽  
Personal Genomic Testing ◽  
Direct To Consumer ◽  
Genetic Test Results ◽  
The Impact

Gene-Based Dose Optimization in Children

2020 ◽  
Vol 60 (1) ◽  
pp. 311-331 ◽  
Author(s):  
Laura B. Ramsey ◽  
Jacob T. Brown ◽  
Susan I. Vear ◽  
Jeffrey R. Bishop ◽  
Sara L. Van Driest
Keyword(s):  
Precision Medicine ◽  
Selective Serotonin Reuptake Inhibitors ◽  
Pediatric Patients ◽  
Genetic Test ◽  
Dose Optimization ◽  
Gene Interactions ◽  
Test Results ◽  
Common Drug ◽  
Metabolism Enzymes ◽  
Genetic Test Results

Pharmacogenetics is a key component of precision medicine. Genetic variation in drug metabolism enzymes can lead to variable exposure to drugs and metabolites, potentially leading to inefficacy and drug toxicity. Although the evidence for pharmacogenetic associations in children is not as extensive as for adults, there are several drugs across diverse therapeutic areas with robust pediatric data indicating important, and relatively common, drug–gene interactions. Guidelines to assist gene-based dose optimization are available for codeine, thiopurine drugs, selective serotonin reuptake inhibitors, atomoxetine, tacrolimus, and voriconazole. For each of these drugs, there is an opportunity to clinically implement precision medicine approaches with children for whom genetic test results are known or are obtained at the time of prescribing. For many more drugs that are commonly used in pediatric patients, additional investigation is needed to determine the genetic factors influencing appropriate dose.

scholarly journals The Symptom Discounting Effect : What to Do When Negative Genetic Test Results Become Risk Factors for Alcohol Use Disorder

2021 ◽  
Author(s):  
woo-kyoung ahn ◽  
Annalise Perricone
Keyword(s):  
Genetic Testing ◽  
Alcohol Use ◽  
Alcohol Use Disorder ◽  
Genetic Test ◽  
Test Results ◽  
Markov Condition ◽  
Problematic Drinking ◽  
Direct To Consumer ◽  
Genetic Test Results ◽  
Testing Company

Abstract Most consumers of genetic testing for health conditions test negative, yet the psychological perils of this are hardly known. In three experiments (N=2,103) participants discounted repercussions of Alcohol Use Disorder (AUD), after learning or imagining that they were not genetically predisposed to AUD. Such discounting can lead people to avoid treatment and to feel safe to continue or even increase their drinking, ironically turning the negative genetic feedback into a risk factor for AUD. This misconception derives from not understanding the Causal Markov condition as applied to this case; once AUD symptoms are present, their ramifications remain the same regardless of whether genes or environments caused the symptoms. Educating participants about this principle mitigated the irrational discounting of threats of AUD, even among Individuals already engaging in problematic drinking, for whom the debriefing currently used by a direct-to-consumer genetic testing company was found to be ineffective in the current study.

scholarly journals Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Scott P. McGrath ◽  
Nephi Walton ◽  
Marc S. Williams ◽  
Katherine K. Kim ◽  
Kiran Bastola
Keyword(s):  
Primary Care ◽  
Self Efficacy ◽  
Genetic Test ◽  
Primary Care Providers ◽  
The United States ◽  
Genetic Counselors ◽  
Medical Professionals ◽  
Test Results ◽  
Direct To Consumer ◽  
Genetic Test Results

Abstract Background Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). Methods Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. Results The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist’s 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient’s genetic results were higher for the specialists than the provider group. Conclusion Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable.

Parents' long-term adjustment to the genetic test results of minors at risk for Long QT Syndrome

2004 ◽  
Author(s):  
K. S. W. H. Hendriks ◽  
F. J. M. Grosfeld ◽  
A. A. M. Wilde ◽  
J. van den Bout ◽  
I. M. van Langen ◽  
...  
Keyword(s):  
At Risk ◽  
Long Qt Syndrome ◽  
Genetic Test ◽  
Test Results ◽  
Long Qt ◽  
Genetic Test Results ◽  
Qt Syndrome

Metagnosis

2020 ◽  
Author(s):  
Danielle Spencer
Keyword(s):  
Real World ◽  
Genetic Test ◽  
Narrative Medicine ◽  
Test Results ◽  
Diagnostic Categories ◽  
Genomic Knowledge ◽  
Blade Runner ◽  
Genetic Test Results ◽  
Scant Attention ◽  
Productive Model

This book identifies and names the phenomenon of metagnosis: the experience of newly learning in adulthood of a long-standing condition. It can occur when the condition has remained undetected (e.g., colorblindness) and/or when the diagnostic categories themselves have shifted (e.g., ADHD). More broadly, it can occur with unexpected revelations bearing upon selfhood, such as surprising genetic test results. This phenomenon has received relatively scant attention, yet learning of an unknown condition is frequently a significant and bewildering revelation, subverting narrative expectations and customary categories. In addressing the topic this book deploys an evolution of narrative medicine as a robust research methodology comprising interdisciplinarity, narrative attentiveness, and creating a writerly text. Beginning with the author’s own experience of metagnosis, it explores the issues it raises—from communicability to narrative intelligibility to different ways of seeing. Next, it traces the distinctive metagnostic narrative arc through the stages of recognition, subversion, and renegotiation, discussing this trajectory in light of a range of metagnostic experiences, from Blade Runner to real-world midlife diagnoses. Finally, it situates metagnosis in relation to genetic revelations and the broader discourses concerning identity. Proposing that the figure of blindsight—drawn from the author’s metagnostic experience—offers a productive model for negotiating such revelations, the book suggests that better understanding metagnosis will not simply aid those directly affected but will also serve as a bellwether for how we will all navigate advancing biomedical and genomic knowledge, and how we may fruitfully interrogate the very notion of identity.

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