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.

scholarly journals Effective communication of molecular genetic test results to primary care providers

2012 ◽  
Vol 15 (6) ◽  
pp. 444-449 ◽  
Author(s):  
Maren T. Scheuner ◽  
◽  
Maria Orlando Edelen ◽  
Lee H. Hilborne ◽  
Ira M. Lubin
Keyword(s):  
Primary Care ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Effective Communication ◽  
Primary Care Providers ◽  
Test Results ◽  
Care Providers ◽  
Genetic Test Results ◽  
Molecular Genetic Test

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 Case-finding and genetic testing for familial hypercholesterolaemia in primary care

Heart ◽  
2021 ◽  
pp. heartjnl-2021-319742
Author(s):  
Nadeem Qureshi ◽  
Ralph Kwame Akyea ◽  
Brittany Dutton ◽  
Steve E Humphries ◽  
Hasidah Abdul Hamid ◽  
...  
Keyword(s):  
Primary Care ◽  
Genetic Testing ◽  
Familial Hypercholesterolaemia ◽  
Genetic Test ◽  
Significant Proportion ◽  
Case Finding ◽  
Test Results ◽  
Family History Questionnaire ◽  
Increased Risk ◽  
Genetic Test Results

ObjectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results.MethodsIn 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices’ population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care.ResultsGenetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002).ConclusionElectronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care.Trial registration numberNCT03934320.

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

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.

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