Genetic testing costs and compliance with clinical best practices

2020 ◽  
Vol 29 (6) ◽  
pp. 1186-1191
Author(s):  
Kathleen Montanez ◽  
Taylor Berninger ◽  
Mary Willis ◽  
Aaron Harding ◽  
Monica A. Lutgendorf
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Testing Costs

Genetic Testing Costs and Compliance With Clinical Best Practices [19OP]

2017 ◽  
Vol 129 ◽  
pp. 7S
Author(s):  
Kathleen Ruzzo ◽  
Taylor J. Sale ◽  
Mary J. Willis ◽  
Aaron J. Harding ◽  
Monica A. Lutgendorf
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Testing Costs

scholarly journals Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

2020 ◽  
Vol 11 (05) ◽  
pp. 755-763
Author(s):  
Shibani Kanungo ◽  
Jayne Barr ◽  
Parker Crutchfield ◽  
Casey Fealko ◽  
Neelkamal Soares
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Health Care Providers ◽  
Genetic Information ◽  
Ethical Issues ◽  
Interdisciplinary Approach ◽  
Care Providers ◽  
Ethical Considerations ◽  
Electronic Health ◽  
Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

An audit of cardiac genetic testing costs in a regional genetics unit

2014 ◽  
Vol 23 ◽  
pp. e16
Author(s):  
Ronan A ◽  
Lawler R ◽  
Ingrey A
Keyword(s):  
Genetic Testing ◽  
Testing Costs

scholarly journals Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

2020 ◽  
Vol 13 (4) ◽  
Author(s):  
Kiran Musunuru ◽  
Ray E. Hershberger ◽  
Sharlene M. Day ◽  
N. Jennifer Klinedinst ◽  
Andrew P. Landstrom ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cardiovascular Diseases ◽  
Best Practices ◽  
Human Genetics ◽  
American Heart ◽  
Heart Association ◽  
Test Results ◽  
Lipid Disorders ◽  
Genetic Test Results ◽  
Scientific Statement

Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia. However, not all cardiovascular practitioners are fully aware of the utility and potential pitfalls of incorporating genetic test results into the care of patients and their families. This statement summarizes current best practices with respect to genetic testing and its implications for the management of inherited cardiovascular diseases.

Cost-effectiveness of genotype-guided aspirin use for colorectal cancer prevention.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e18318-e18318
Author(s):  
Eman Biltaji ◽  
Trang H. Au ◽  
Brandon Walker ◽  
Jennifer Ose ◽  
Cornelia M Ulrich ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Cost Effectiveness ◽  
Adverse Events ◽  
Bleeding Complications ◽  
Average Risk ◽  
Risk Population ◽  
Life Years ◽  
Quality Adjusted Life ◽  
Testing Costs

e18318 Background: Colonoscopy is the “gold standard” for colorectal cancer (CRC) screening. However, adherence rates are low and detection is not optimal. Concomitant aspirin chemoprevention is recommended by US Preventive Task Force, but bleeding complications can be limiting. Variant genotypes in aspirin metabolism can modify CRC and adenoma risk. Genotype guided aspirin (ggASA) use will identify a targeted average-risk population for maximal aspirin benefit while minimizing adverse events rates compared to the general population. We conducted a cost-effectiveness analysis (CEA) of primary chemoprevention in CRC using ggASA compared to no intervention, and colonoscopy ±general aspirin in healthy average-risk individuals. Methods: Our Markov decision analytical model consisted of 5 possible health states: no CRC/polyps, adenoma, pre-clinical CRC, CRC, and death. Model probabilities for CRC and its prevalence were estimated using SEER database and published literature. A microsimulation of 10,000 individuals aged 50-64 years was used to estimate cost-effectiveness from US payer perspective over lifetime. One way and probabilistic sensitivity analyses and model validation results will be reported in the final poster. Results: Our results suggest that compared to colonoscopy and no intervention, ggASA was associated with fewer CRC cases, and CRC-related deaths and MI cases. Compared to colonoscopy + general aspirin, ggASA was associated with fewer bleeding events, similar rates of CRC and CRC-related deaths, and fewer MI cases prevented. From a cost-effectiveness standpoint, ggASA use over a lifetime had the lowest costs and highest quality adjusted life years gained compared to other strategies, if testing costs were ignored. Once genetic testing costs exceeds $63, colonoscopy + general aspirin becomes the most cost effective strategy. Between genetic testing cost of $63-283, the costs of using ggASA per quality adjusted life year gained is below $100,000. Conclusions: Genotype-guided aspirin use precisely identifies an average-risk population, and lowers adverse events rates compared to general aspirin. The economic value of genotype-guided aspirin is dependent on the genetic testing costs.

scholarly journals A Qualitative Study to Develop a Privacy and Nondiscrimination Best Practice Framework for Personalized Wellness Programs

2020 ◽  
Vol 10 (4) ◽  
pp. 264
Author(s):  
Rachele M. Hendricks-Sturrup ◽  
Kathy L. Cerminara ◽  
Christine Y. Lu
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Health Information ◽  
Best Practice ◽  
Digital Health ◽  
Wellness Programs ◽  
The United States ◽  
Eu Law ◽  
Employee Privacy ◽  
The Us

Employers in the United States (US) increasingly offer personalized wellness products as a workplace benefit. In doing so, those employers must be cognizant of not only US law but also European Union (EU) law to the extent that the EU law applies to European immigrants or guest workers in the US. To the extent that wellness programs are implemented in either public health or employment contexts within the US and/or EU, sponsors of these programs can partner with direct-to-consumer (DTC) genetic testing companies and other digital health companies to generate, collect, and process sensitive health information that are loosely or partially regulated from a privacy and nondiscrimination standpoint. Balancing claims about the benefits of wellness programs are concerns about employee health privacy and discrimination and the current unregulated nature of consumer health data. We qualitatively explored the concerns and opinions of public and legislative stakeholders in the US to determine key themes and develop privacy and nondiscrimination best practices. Key themes emerged as promoting a culture of trust and wellness. Best practices within these themes were: (1) have transparent and prominent data standards and practices, (2) uphold employee privacy and nondiscrimination standards, (3) remove penalties associated with biometric outcomes and nondisclosure of sensitive health information, (4) reward healthy behavior regardless of biometric outcomes, and (5) make program benefits accessible regardless of personal status. Employers, DTC genetic testing companies, policymakers, and stakeholders broadly should consider these themes and best practices in the current absence of broad regulations on nondiscriminatory workplace wellness programs.

Reflex Lynch syndrome screening by example: A review of existing programs.

2015 ◽  
Vol 33 (3_suppl) ◽  
pp. 543-543 ◽  
Author(s):  
Corinne Daly ◽  
Carolyn Rotenberg ◽  
Marcia Facey ◽  
Natalie A. Baker ◽  
Nancy N. Baxter
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Best Practices ◽  
Lynch Syndrome ◽  
Program Implementation ◽  
Health Management ◽  
Family Care ◽  
Population Based ◽  
Structured Interviews ◽  
Screening Programs

543 Background: Reflex screening for Lynch Syndrome (LS) has been recommended, however occurs in few jurisdictions worldwide. We aimed to explore program structure, pathology testing, implementation challenges and future directions of existing reflex LS screening programs in various jurisdictions to develop best practices for future programs. Methods: We identified existing reflex LS screening programs through a literature search and expert opinion. Information on program implementation, patient population, family care involvement, monitoring and improvements was collected through semi-structured interviews with program leaders, pathologists, technical staff, and family physicians. Pattern, thematic and content analysis were used to analyze and extract program features, sequence of pathological testing and best practices. Results: 26 participants across 7 programs completed interviews. There were 3 government-funded, population-based programs (Manitoba, Western Australia, and New South Wales), 2 private health management organization programs implemented across affiliated healthcare centers (Pennsylvania and Southern California); and 2 hospital-based programs (Ohio and Utah). Five programs screened all patients with CRC for LS while 2 programs designated an upper age limit for screening. The majority of programs tested tumor samples for LS using a combination of immunohistochemistry and BRAF mutation analysis. In jurisdictions relying on surgeons' referral to genetic counseling without navigation, uptake of genetic testing was lower than expected. Programs implementing early education of surgeons and pathologists in reflex screening procedures reported confidence in skills, collaboration and communication. Communication materials for family members of affected individuals were recommended to increase family engagement in genetic counselling. Conclusions: There are a variety of reflex LS screening programs with varying standards and protocols. Program design influences uptake of genetic testing; programs with an imbedded navigation plan for those who need genetic counseling enhance rates of adherence. This should be an important consideration when planning future reflex screening programs.

Addendum

2019 ◽  
pp. 232-249
Author(s):  
Andelka M Phillips
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Code Of Practice ◽  
Final Note ◽  
The Future ◽  
Recent Developments

This Addendum was added in order to keep the book as current as possible. It includes a final note on recent developments. It also includes two appendices: the commitments made by the Association of British Insurers in its Code of Practice on Genetic Testing and Insurance; and the Privacy Best Practices released by the Future of Privacy Forum

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