scholarly journals Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

2017 ◽  
Vol 26 (6) ◽  
pp. 1270-1279 ◽  
Author(s):  
Diane R Koeller ◽  
◽  
Wendy R Uhlmann ◽  
Deanna Alexis Carere ◽  
Robert C Green ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Personal Genomics ◽  
Direct To Consumer ◽  
The Impact

scholarly journals Impact of direct-to-consumer genetic testing on Australian clinical genetics services

2020 ◽  
Author(s):  
Michael Millward ◽  
Jane Tiller ◽  
Michael Bogwitz ◽  
Helen Kincaid ◽  
Shelby Taylor ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Risk ◽  
Online Survey ◽  
Third Party ◽  
Clinical Genetics ◽  
Direct To Consumer ◽  
Risk Estimates ◽  
Genetics Services ◽  
Clinical Genetics Services ◽  
The Impact

AbstractPurposeThe increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic health services worldwide. However, no studies have collected recent evidence regarding the extent of this impact in Australia.MethodsWe administered an online survey to Australian clinical genetics services, asking questions related to DTCGT-related referrals received and outcomes over the past 10 years.ResultsEleven publicly-funded clinical genetics services completed the survey, reporting over 100 DTCGT-related referrals. Most referrals (83%) were made by general practitioners seeking interpretation of DTCGT results. More than 30% of referrals related to imputed genetic risk estimates generated from third-party web-based software tools. Services reported low validation rates for DTCGT results (<10%). Procedures for managing DTCGT referrals and granting appointments were variable between services, with most services (8/11) lacking specific procedures.ConclusionOur study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed genetic risk estimates generated from third-party software.

FDA Approval of PARP Inhibitors and the Impact on Genetic Counseling and Genetic Testing Practices

2017 ◽  
Vol 27 (1) ◽  
pp. 131-139 ◽  
Author(s):  
Kathryn M. Buchtel ◽  
Kristen J. Vogel Postula ◽  
Shelly Weiss ◽  
Carmen Williams ◽  
Mario Pineda ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Parp Inhibitors ◽  
Fda Approval ◽  
Testing Practices ◽  
The Impact

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

The Rise of Personal Genomics: An Overview of the Direct-to-Consumer Genetic Testing Industry

2019 ◽  
pp. 71-124
Author(s):  
Andelka M Phillips
Keyword(s):  
Genetic Testing ◽  
Personal Genomics ◽  
Direct To Consumer ◽  
Different Types

This chapter begins with an overview of the industry, including a discussion of the different types of tests available and prominent companies. It divided into sections addressing each of the different types of tests available. These discuss the companies operating and the issues which each type of test raises, including the implications for consumers. This draws upon the author’s research on the industry, some version of her dataset are available via Zenodo. https://zenodo.org/record/1183565#.Xfa18i1L0_U

The impact of converting to telehealth for cancer genetic counseling and testing during the COVID-19 pandemic.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e13612-e13612
Author(s):  
Katherine Crawford ◽  
Ekaterina Koelliker ◽  
Ellie Proussaloglou ◽  
Jessica Laprise ◽  
Jennifer Scalia Wilbur ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Saliva Sample ◽  
Cancer Genetic Counseling ◽  
Testing Time ◽  
Cancer Genetic ◽  
Blood Draw ◽  
Significant Difference ◽  
The Impact

e13612 Background: The COVID-19 outbreak in March 2020 resulted in the shift to telemedicine for many specialties including cancer genetic counseling (GC). We sought to understand the impact that converting GC services to telehealth (TH) would have on patient acceptance of recommended genetic testing, time to completion of testing, and time to follow-up GC consultation. Methods: Data analyzing GC in-patient vs. TH consultations were collected using both electronic medical record as well as a laboratory’s testing portal. Statistical analysis was performed using R statistical software. The rates of patient agreement to genetic testing and sample success, along with the time to report availability and to GC follow-up visit was compared between traditional in-person visits and TH visits during the COVID-19 pandemic. In-person visits from March -July 2019 were compared with date matched visits from March -July 2020, when all visits had been converted to TH. Patients who received an in-person consultation received a blood draw on the day of their appointment while TH patients were asked to mail a saliva sample back to the testing laboratory. Results: An analysis of a case-matched cohort between 2019 in-person new visits (n = 30) and 2020 TH new visits (n = 48) was performed. There was not a significant difference in rate of consent to suggested testing between in-person (93.3%) and TH (91.2%) (p = 0.29), though a few TH patients who consented failed to submit a sample (% tested = 93.3% vs. 85.4%, p = 0.01). TH patients had a longer time between their initial consult and when the test report was generated with average turn-around time increasing from 14.33 to 33.82 days (p < 0.1). There was no increase in time from initial consultation to follow up GC appointments (70.46 vs. 75.96 days, p = 0.74) for TH and in-person, respectively. Conclusions: Our data shows that during COVID-19, TH allowed patients to access GC with no significant differences in the length of time between initial consultation and follow up appointments. The type of GC received did not greatly influence a patient’s willingness to consent to testing, despite challenges related to the COVID-19 pandemic, indicating that TH services may be an acceptable substitute. However, TH services are not without their limitations as time between the initial appointment and receipt of test results was significantly longer and sample failure rates were higher. We postulate that the delay was due to the time it took to ship the saliva kit, have the patient collect the sample at home, and return the specimen back to the lab rather than the immediate blood draw that occurs during the in-person visit. The higher sample failure rate seen in TH is likely due to the differences between blood and saliva collections. Additional research is needed to fully understand the outcomes observed in this study in order to assist in developing the most effective strategies for cancer genetic TH services.

Ten-fold increase in genetic testing in pancreatic and metastatic prostate cancer with implementation of point of care (POC) testing.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1506-1506 ◽  
Author(s):  
Heather Symecko ◽  
Rebecca Mueller ◽  
Kelsey Spielman ◽  
Melissa Batson ◽  
Stacy Pundock ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Family Members ◽  
Fold Increase ◽  
Number Of Patients ◽  
Before And After ◽  
Post Test ◽  
The Impact ◽  
Before And After Study

1506 Background: Germline genetic testing (GT) for cancer susceptibility is recommended for pancreatic and advanced prostate cancer patients, due to potential implications for targeted therapies and risk assessment of family members. Traditional cancer GT programs may create barriers for certain patient populations. To more effectively integrate testing into standard oncology care POC GT was introduced in early 2018 in a joint protocol with Memorial Sloan Kettering Cancer Center. Here we report pre and post POC referral and testing numbers at the University of Pennsylvania. Methods: Patients with metastatic prostate or pancreatic cancer were ascertained through their GU/GI oncologist onto an IRB approved protocol and shown an educational video about GT by research staff who obtained informed consent and facilitated biospecimen collection. Genetic counselors returned results and provided post-test counseling by phone. To evaluate the impact of this model on the uptake of GT services, the number of patients who were referred to and proceeded with GT was compared before and after study initiation. Results: In 2017, 77 patients were referred to genetics of which 45 underwent genetic counseling and testing. Twenty-nine (38%) did not complete genetic counseling or testing, and 3 later underwent testing through the POC study. Since the study launched in 2018, 407 patients were referred and underwent testing through the study. This represents a ten-fold increase in patients who underwent GT. Conclusions: Comparing uptake of GT services before and after study initiation suggests that a POC model with abbreviated pre-test education and post-test genetic counseling by phone is a possible solution to barriers of traditional genetic counseling, increasing physician referrals and uptake of testing by patients. This approach allows for more timely access to genetic information that may impact treatment strategies and medical management of family members. Clinical trial information: pending. [Table: see text]

scholarly journals Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility

2020 ◽  
pp. 161-169
Author(s):  
Madison K. Kilbride ◽  
Angela R. Bradbury
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Web Sites ◽  
Clinical Laboratory ◽  
Cancer Susceptibility ◽  
Molecular Technique ◽  
Genetic Tests ◽  
Comprehensive Overview ◽  
Direct To Consumer ◽  
Informed Decisions

PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.

scholarly journals The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk

2008 ◽  
Vol 10 (12) ◽  
pp. 888-894 ◽  
Author(s):  
Jan T Lowery ◽  
Tim Byers ◽  
Lisen Axell ◽  
Lisa Ku ◽  
Jillian Jacobellis
Keyword(s):  
Genetic Testing ◽  
Genetic Risk ◽  
Cancer Genetic ◽  
Direct To Consumer ◽  
Consumer Marketing ◽  
The Impact
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