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 Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

2007 ◽  
Vol 9 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Matthew J. McGinniss ◽  
Rebecca Chen ◽  
Victoria M. Pratt ◽  
Arlene Buller ◽  
Franklin Quan ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Test Results ◽  
Web Based ◽  
Genetic Test Results ◽  
Query Tool ◽  
Molecular Genetic Test

Discrepant DNA analysis in three patients with inherited arrhythmia: Molecular genetic test results deserve a second glance

2008 ◽  
Vol 146A (11) ◽  
pp. 1466-1469 ◽  
Author(s):  
Christina R. Honeywell ◽  
Michael H. Gollob ◽  
Julie Rutberg ◽  
Robert M. Gow ◽  
Michael T. Geraghty
Keyword(s):  
Dna Analysis ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Test Results ◽  
Genetic Test Results ◽  
Inherited Arrhythmia ◽  
Molecular Genetic Test

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 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.

Primary Care Providers' Interest in Using a Genetic Test to Guide Alcohol Use Disorder Treatment

2016 ◽  
Vol 70 ◽  
pp. 14-20 ◽  
Author(s):  
Emily C. Williams ◽  
Jessica P. Young ◽  
Carol E. Achtmeyer ◽  
Christian S. Hendershot
Keyword(s):  
Primary Care ◽  
Alcohol Use ◽  
Alcohol Use Disorder ◽  
Genetic Test ◽  
Primary Care Providers ◽  
Care Providers ◽  
Disorder Treatment

scholarly journals Combining faecal immunochemical testing with blood test results to identify patients with symptoms at risk of colorectal cancer: a consecutive cohort of 16,604 patients tested in primary care

2021 ◽  
Author(s):  
Diana R Withrow ◽  
Brian Shine ◽  
Jason Oke ◽  
Andres Tamm ◽  
Tim James ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Primary Care ◽  
Blood Test ◽  
Primary Care Providers ◽  
University Hospital ◽  
Test Results ◽  
Care Providers ◽  
Mean Cell Volume ◽  
Predictive Values ◽  
Cancer Symptoms

Objective: Faecal immunochemical tests (FITs) are used to triage primary care patients with low risk colorectal cancer symptoms for referral to colonoscopy. The aim of this study was to determine whether combining FIT with routine blood test results could improve the performance of FIT in the primary care setting. Design: Results of all consecutive FITs requested by primary care providers between March 2017 and December 2020 were retrieved from the Oxford University Hospital Trust. Demographic factors (age, sex), reason for referral, and results of blood tests within 90 days were also retrieved. Patients were followed up for incident colorectal cancer in linked hospital records. The sensitivity, specificity, positive and negative predictive values of FIT alone, FIT paired with blood test results, and several multivariable FIT models, were compared. Results: Among 16,604 eligible patients, 139 colorectal cancers were diagnosed (0.8%). Sensitivity and specificity of FIT alone at a threshold of 10 μg Hb/g were 92.1% and 91.5% respectively. Compared to FIT alone, blood test results did not improve the performance of FIT. Pairing blood test abnormalities with FIT reduced the number of abnormal results needed to detect one cancer but increased the number of cancers missed. Multivariable models retaining FIT, sex, and mean cell volume performed similarly to FIT alone. Conclusion: FIT is a highly sensitive tool for identifying higher risk individuals presenting to primary care with lower risk symptoms. Combining blood test results with FIT does not appear to lead to better discrimination for colorectal cancer than using FIT alone.

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