Successful implementation of a national HLA-B*5701 genetic testing service in Canada

Describes Myriad Genetics and its struggle to develop a genetic testing service while facing challenges from competitors and activist organizations. After Myriad's discovery of the BRCA gene, capable of genetic testing for breast cancer in women, Myriad needed to choose a strategy to provide this service to the public. With several major competitors offering similar services, intense media scrutiny, and a charged activist and political climate, a poor Myriad decision could have major repercussions.

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5 Years of Steady Progress: DTC Genetic Testing Service MYCODE

Annals of Oncology ◽

10.1093/annonc/mdz318 ◽

2019 ◽

Vol 30 ◽

pp. vi23

Author(s):

Kuniaki Miyake

Keyword(s):

Genetic Testing ◽

Testing Service ◽

Genetic Testing Service

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Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing (Preprint)

10.2196/preprints.14890 ◽

2019 ◽

Author(s):

Scott Thiebes ◽

Philipp A Toussaint ◽

Jaehyeon Ju ◽

Jae-Hyeon Ahn ◽

Kalle Lyytinen ◽

...

Keyword(s):

Genetic Testing ◽

Business Models ◽

Service Providers ◽

Phase 1 ◽

Specific Information ◽

Business Practices ◽

Testing Service ◽

Direct To Consumer ◽

Service Business ◽

Genetic Testing Service

BACKGROUND Recent progress in genome data collection and analysis technologies has led to a surge of direct-to-consumer (DTC) genetic testing services. Owing to the clinical value and sensitivity of genomic data, as well as uncertainty and hearsay surrounding business practices of DTC genetic testing service providers, DTC genetic testing has faced significant criticism by researchers and practitioners. Research in this area has centered on ethical and legal implications of providing genetic tests directly to consumers, but we still lack a more profound understanding of how businesses in the DTC genetic testing markets work and provide value to different stakeholders. OBJECTIVE The aim of this study was to address the lack of knowledge concerning business models of DTC genetic testing services by systematically identifying the salient properties of various DTC genetic testing service business models as well as discerning dominant business models in the market. METHODS We employed a 3-phased research approach. In phase 1, we set up a database of 277 DTC genetic testing services. In phase 2, we drew on these data as well as conceptual models of DTC genetic testing services and iteratively developed a taxonomy of DTC genetic testing service business models. In phase 3, we used a 2-stage clustering method to cluster the 277 services that we identified during phase 1 and derived 6 dominant archetypes of DTC genetic testing service business models. RESULTS The contributions of this research are 2-fold. First, we provided a first of its kind, systematically developed taxonomy of DTC genetic testing service business models consisting of 15 dimensions in 4 categories. Each dimension comprises 2 to 5 characteristics and captures relevant aspects of DTC genetic testing service business models. Second, we derived 6 archetypes of DTC genetic testing service business models named as follows: (1) low-cost DTC genomics for enthusiasts, (2) high-privacy DTC genomics for enthusiasts, (3) specific information tests, (4) simple health tests, (5) basic low-value DTC genomics, and (6) comprehensive tests and low data processing. CONCLUSIONS Our analysis paints a much more complex business landscape in the DTC genetic testing market than previously anticipated. This calls for further research on business models and their effects that underlie DTC genetic testing services and invites specific regulatory interventions to protect consumers and level the playing field.

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Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing

Journal of Medical Internet Research ◽

10.2196/14890 ◽

2020 ◽

Vol 22 (1) ◽

pp. e14890 ◽

Cited By ~ 2

Author(s):

Scott Thiebes ◽

Philipp A Toussaint ◽

Jaehyeon Ju ◽

Jae-Hyeon Ahn ◽

Kalle Lyytinen ◽

...

Keyword(s):

Genetic Testing ◽

Business Models ◽

Service Providers ◽

Phase 1 ◽

Specific Information ◽

Business Practices ◽

Testing Service ◽

Direct To Consumer ◽

Service Business ◽

Genetic Testing Service

Background Recent progress in genome data collection and analysis technologies has led to a surge of direct-to-consumer (DTC) genetic testing services. Owing to the clinical value and sensitivity of genomic data, as well as uncertainty and hearsay surrounding business practices of DTC genetic testing service providers, DTC genetic testing has faced significant criticism by researchers and practitioners. Research in this area has centered on ethical and legal implications of providing genetic tests directly to consumers, but we still lack a more profound understanding of how businesses in the DTC genetic testing markets work and provide value to different stakeholders. Objective The aim of this study was to address the lack of knowledge concerning business models of DTC genetic testing services by systematically identifying the salient properties of various DTC genetic testing service business models as well as discerning dominant business models in the market. Methods We employed a 3-phased research approach. In phase 1, we set up a database of 277 DTC genetic testing services. In phase 2, we drew on these data as well as conceptual models of DTC genetic testing services and iteratively developed a taxonomy of DTC genetic testing service business models. In phase 3, we used a 2-stage clustering method to cluster the 277 services that we identified during phase 1 and derived 6 dominant archetypes of DTC genetic testing service business models. Results The contributions of this research are 2-fold. First, we provided a first of its kind, systematically developed taxonomy of DTC genetic testing service business models consisting of 15 dimensions in 4 categories. Each dimension comprises 2 to 5 characteristics and captures relevant aspects of DTC genetic testing service business models. Second, we derived 6 archetypes of DTC genetic testing service business models named as follows: (1) low-cost DTC genomics for enthusiasts, (2) high-privacy DTC genomics for enthusiasts, (3) specific information tests, (4) simple health tests, (5) basic low-value DTC genomics, and (6) comprehensive tests and low data processing. Conclusions Our analysis paints a much more complex business landscape in the DTC genetic testing market than previously anticipated. This calls for further research on business models and their effects that underlie DTC genetic testing services and invites specific regulatory interventions to protect consumers and level the playing field.

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Successful implementation of universal genetic testing in a county hospital gynecologic oncology clinic: A quality improvement initiative

Gynecologic Oncology ◽

10.1016/j.ygyno.2018.04.284 ◽

2018 ◽

Vol 149 ◽

pp. 123

Author(s):

E.M. Bednar ◽

B. Camacho ◽

C.C.L. Sun ◽

A.G. Rieber ◽

L.M. Ramondetta ◽

...

Keyword(s):

Quality Improvement ◽

Genetic Testing ◽

Gynecologic Oncology ◽

County Hospital ◽

Quality Improvement Initiative ◽

Successful Implementation

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The positive impact of implementing an onsite guideline-based genetic testing procedure for prostate cancer in a multidisciplinary uro-oncology clinic.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.6_suppl.234 ◽

2021 ◽

Vol 39 (6_suppl) ◽

pp. 234-234

Author(s):

Siddharth Ramanathan ◽

Sadhna Ramanathan ◽

Andrew Korman ◽

Samer Ballouz ◽

Michael Ghilezan ◽

...

Keyword(s):

Prostate Cancer ◽

Genetic Testing ◽

Cancer Patients ◽

Genetic Test ◽

Positive Impact ◽

Consensus Conference ◽

Successful Implementation ◽

Test Results ◽

Genetic Test Results ◽

To Receive

234 Background: Prior to the guidelines set forth by the 2017 Philadelphia consensus conference, genetic testing for prostate cancer was conducted based on personal and family history of malignancies pursuant to NCCN recommendations. The 2017 guidelines expanded testing criteria to included age at diagnosis, metastatic disease, and tumor sequencing. In spite of these advancements, limited literature is available regarding successful implementation of a streamlined system for genetic testing in prostate cancer. This paper explores the benefits of implementing an on-site guideline-based genetic testing process for prostate cancer patients treated at a multi-disciplinary uro-oncology practice. Methods: Data was retrospectively reviewed for 561 prostate cancer patients seen in a multi-disciplinary uro-oncology clinic since January 2017. Prior to January, 1, 2019 genetic testing was recommended to patients based on NCCN guidelines, and swabs for testing were procured off-site less than 1 mile from the clinic (n=107). After January, 1, 2019 genetic testing was recommended based on the guidelines set forth by the Philadelphia consensus conference, and swabs for testing were procured at the clinic itself (n=454). Results: A statistically significant increase in compliance with genetic testing was observed after the implementation of an on-site, guideline-based testing process. Patient compliance with genetic testing increased from 33.6% to 96.5%. The time to receive the genetic test results (calculated as the time between referral for genetic testing and obtaining the test results) was also significantly improved from 38 days to 21 days. Conclusions: The implementation of an on-site, guideline-based genetic testing model for prostate cancer patients significantly improved compliance with genetic testing to 96.5% and decreased the time to receive genetic test results by 17 days. Overall, adopting a guide-line based model with on-site genetic testing has the potential to significantly improve the detection rate for pathogenic and actionable mutations, increase the utilization of targeted therapies, and increase cascade testing to include at-risk family members.

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