scholarly journals An Electronic Strategy for Eliminating Unnecessary Duplicate Genetic Testing

2019 ◽  
Author(s):  
Jacquelyn D Riley ◽  
Glenn Stanley ◽  
Robert Wyllie ◽  
Holly L Burt ◽  
Sandra B Horwitz ◽  
...  
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Cost Savings ◽  
Clinical Decision ◽  
Genetic Tests ◽  
Genetic Test Results ◽  
Electronic Interventions ◽  
The Impact ◽  
Electronic Intervention

Abstract Objectives To determine the impact of an electronic intervention designed to block duplicate constitutional genetic tests. Methods We constructed, implemented, and studied an electronic intervention that stopped duplicate genetic tests. The activation frequency, types of tests affected, and cost savings achieved with this intervention were determined. The frequency and justification of override requests were also studied. Results This intervention stopped 710 unnecessary duplicate genetic tests over a 3-year period and saved $98,596. The tests with the highest numbers of alerts were those used for screening presurgical or transplant patients and were commonly part of an order set or test panel. Most override requests were justified because of the lack of exclusion codes in the initial programming. Conclusions Electronic interventions that stop duplicate genetic testing, if properly constructed, can reduce waste, save health care dollars, and facilitate patient care by directing the provider to a test that has already been performed. 1.Duplicate molecular genetic testing, although generally unnecessary, occurs due to challenges in locating previous results. 2.Clinical decision support at order entry alerts providers to previous genetic test results and restricts repeat orders. 3.This Once-in-a-Lifetime electronic intervention supports a value-based health care model by reducing unnecessary genetic testing and associated costs.

Ethical Issues in Genetic Research with Infants

2018 ◽  
pp. 155-171
Author(s):  
Erin Rothwell ◽  
Jeffrey R. Botkin
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Ethical Issues ◽  
Genetic Research ◽  
Newborn Health ◽  
Research Use ◽  
Whole Genome ◽  
Use Of Data ◽  
The Impact ◽  
Genetic Results

There are a number of ethical issues raised when newborns participate in research. Two examples include genetic testing, and the storage and research use of biospecimens collected from newborns. This chapter highlights a range of ethical, legal, and social implications with these practices. Examples from retention of residual newborn screening bloodspots, use of biospecimens collected from infants in biomedical research, concerns with the use of whole genome sequencing, and challenges of consent during the newborn period are discussed. These issues are explored within the context of newborns who are healthy or newborns faced with an undiagnosed condition. At this time, more research is needed to understand the impact of genomics on newborn health care, the storage and use of data generated from biospecimens, and how genetic results from newborns impact families. Further challenges around consent and parental permission are also discussed.

Do patents impede the provision of genetic tests in Australia?

2013 ◽  
Vol 37 (3) ◽  
pp. 281 ◽  
Author(s):  
Dianne Nicol ◽  
John Liddicoat
Keyword(s):  
Breast Cancer ◽  
Health Policy ◽  
Genetic Testing ◽  
Evidence Base ◽  
Public Hospitals ◽  
Law Reform ◽  
Genetic Tests ◽  
The Future ◽  
Patent Enforcement ◽  
The Impact

Objective. Health policy and law reform agencies lack a sound evidence base of the impacts of patents on innovation and access to healthcare to assist them in their deliberations. This paper reports the results of a survey of managers of Australian genetic testing laboratories that asked a series of questions relating to the tests they perform, whether they pay to access patented inventions and whether they have received notifications from patent holders about patents associated with particular tests. Results. Some diagnostics facilities are exposed to patent costs, but they are all located in the private sector. No public hospitals reported paying licence fees or royalties beyond those included in the price of commercial test kits. Some respondents reported having received enforcement notices from patent holders, but almost all related to the widely known breast cancer-associated patents. Respondents were also asked for their views on the most effective mechanisms to protect their ability to provide genetic tests now and in the future. Going to the media, paying licence fees, ignoring patent rights and relying on the government to take action were widely seen as most effective. Litigation and applications for compulsory licences were seen as some of the least effective mechanisms. Conclusion. These results provide an evidence base for development of health policy and law reform. What is known about the topic? The impact of patents on the delivery of genetic testing services remains unclear in Australia. What does this paper add? The survey reported in this paper suggests that, aside from well-known enforcement actions relating to the breast cancer associated patents, there is little evidence that providers of genetic testing services are being exposed to aggressive patent-enforcement practices. What are the implications for practitioners? Although patent-enforcement actions may increase in the future, a range of strategies are available to providers of testing services to protect them against adverse consequences of such actions. There are ongoing law reform activities aimed at improving these strategies.

The impact of new technologies on clinical decision-making in health care

Science ◽  
2015 ◽  
Vol 350 (6266) ◽  
pp. 1397-1397
Author(s):  
R. Rosenquist Brandell ◽  
O. Kallioniemi ◽  
A. Wedell
Keyword(s):  
Health Care ◽  
Decision Making ◽  
Clinical Decision Making ◽  
New Technologies ◽  
Clinical Decision ◽  
The Impact

Direct-to-Consumer Genetic Testing

2012 ◽  
Vol 5 (1) ◽  
pp. 35-67 ◽  
Author(s):  
Richard A. Stein
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Double Helix ◽  
Health Care Facilities ◽  
Past Century ◽  
Care Providers ◽  
Genetic Tests ◽  
Direct To Consumer ◽  
Dna Double Helix

Genetics has fascinated societies since ancient times, and references to traits or behaviors that appear to be shared or different among related individuals have permeated legends, literature, and popular culture. Biomedical advances from the past century, and particularly the discovery of the DNA double helix, the increasing numbers of links that were established between mutations and medical conditions or phenotypes, and technological advances that facilitated the sequencing of the human genome, catalyzed the development of genetic testing. Genetic tests were initially performed in health care facilities, interpreted by health care providers, and included the availability of counseling. Recent years have seen an increased availability of genetic tests that are offered by companies directly to consumers, a phenomenon that became known as direct-to-consumer genetic testing. Tests offered in this setting range from the ones that are also provided in health care establishments to tests known as ‘recreational genomics,’ and consumers directly receive the test results. In addition, testing in this context often does not involve the availability of counseling and, when this is provided, it frequently occurs on-line or over the phone. As a field situated at the interface between biotechnology, biomedical research, and social sciences, direct-to-consumer genetic testing opens multiple challenges that can be appropriately addressed only by developing a complex, inter-disciplinary framework.

A comparison of patients' and physicians' expectations regarding precision oncology tests.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1568-1568
Author(s):  
Navdeep Dehar ◽  
Tasnima Abedin ◽  
Patricia A. Tang ◽  
D. Gwyn Bebb ◽  
Winson Y. Cheung
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Cancer Biology ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Survey Study ◽  
Precision Oncology ◽  
Diagnosis And Prognosis ◽  
Genetic Test Results ◽  
Survey Responses

1568 Background: With the increasing number and frequency of biomarker and genetic tests that are offered to patients with cancer, it is important to ensure that they fully understand the implications of these tests. In this survey study, we aimed to compare the attitudes and expectations of patients and cancer physicians about the role of biomarker and genetic testing in clinical decision-making. Methods: Two separate, complimentary, self-administered questionnaires for cancer patients and their physicians, respectively, were collected in Calgary, Alberta, Canada. Survey responses from patients were subsequently matched with those of their corresponding oncologists to form patient–oncologist dyads. We determined the concordance rates between responses of patients and those of their oncologists. Results: A total of 113 patients and 15 physicians participated in the study from July to September 2019. Patients demonstrated good understanding of general cancer biology (79%) and diagnostic processes (91%) associated with precision oncology. About 70% patients were willing to undergo minor procedures, and participate in research involving biomarker or genetic testing; however, this was over-estimated by their physicians in 82% of cases. Many patients felt that their tumor should be tested to guide treatment (70%) and were not bothered by potential delays in treatment due to testing (23%). These views from patients were largely shared by their oncologists (concordance 64%). While only 28% patients thought that they had enough knowledge to make informed decisions, majority (68%) said that they needed more information. Importantly, knowledge and expectations regarding the applications of biomarker or genetic test results on actual diagnosis and prognosis were grossly discrepant between patients and their oncologists (concordance 26% and 36%, respectively). Conclusions: Patients and cancer physicians tend to be aware of the advances in precision oncology and are willing to participate in biomarker and genetic testing and research. However, they do not consistently agree about the roles and applications of these tests, which may result in misplaced expectations. Strategies to improve education and communication are needed to align these expectations and improve the quality of clinical decision-making.

Ethical aspects of genetic testing

2018 ◽  
Author(s):  
Frances Flinter
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Medical Ethics ◽  
Additional Benefit ◽  
Psychological Effects ◽  
Whole Genome ◽  
Ethical Aspects ◽  
Genetic Tests ◽  
Multiple Tests ◽  
Precise Diagnosis

The increasing availability of genetic tests is transforming health care. Patients can benefit from earlier, more precise diagnosis and sometimes tailor-made treatment; their relatives can be offered pre-symptomatic, predictive tests and carrier tests. Physicians must balance confidentiality with duty to other individuals, and are responsible for using genetic tests for the benefit of patients in an ethical way. An offer of testing must balance potential additional benefit from potential downsides of testing including psychological effects, risk of error, continuing uncertainty, and cost. The ability to do multiple tests on many genes, even to sequence the whole genome, is rapidly approaching, and mainstreaming of tests means that geneticists are not necessarily involved. Further work and thinking needs to inform medical ethics in this area.

Integration of germline multigene panel testing into breast and gynecologic oncology clinics.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 164-164
Author(s):  
Mariella Tejada ◽  
June YiJuan Hou ◽  
Katherine D. Crew ◽  
Melissa Kate Accordino ◽  
Kevin Kalinsky ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Clinical Decision Making ◽  
Genetic Test ◽  
Gynecologic Oncology ◽  
Clinical Decision ◽  
Test Results ◽  
Panel Testing ◽  
Genetic Test Results

164 Background: Germline genetic testing plays an important role in informing cancer screening and risk-reducing strategies, as well as treatment decisions with PARP inhibitors for BRCA-associated malignancies. Referrals to clinical genetics for pre-test counseling and results disclosure can be delayed due to financial and logistical barriers, which may ultimately delay clinical decision-making. Our study objective was to understand patient attitudes, knowledge, and anxiety/distress with point-of-care (POC) genetic testing in breast and gynecologic oncology clinics. Methods: We enrolled patients with early-stage breast cancer undergoing neoadjuvant treatment, metastatic breast cancer, ovarian cancer, or endometrial cancer undergoing POC multigene panel testing with their primary oncologist, rather than a genetic counselor. Pre-test counseling came from discussion with their primary oncologist. Participants completed a survey at time of genetic testing and one after return of genetic test results. Validated measures of genetic testing knowledge, cancer-related distress, and attitudes towards genetic testing were included. Descriptive statistics were generated for all data collected and paired t-tests were conducted for baseline and follow-up comparisons. Results: We enrolled 106 subjects, of which 97 completed the baseline survey. All participants were female with a mean age of 61.5 years (SD 13.5). The cohort consisted of participants with the following tumor types: 80 breast, 2 ovarian, and 16 endometrial. Almost 44% of women identified as Hispanic/Latina, 55% had highest level of education of community/technical college or less, and 51.2% reported annual incomes of less than $50,000. Forty-seven percent of participants had adequate baseline genetic testing knowledge scores (defined as at least 50% correct responses). A majority of participants (86.6%) had positive attitudes toward undergoing genetic testing. Results of genetic testing revealed 11 participants (11.3%) with pathogenic or likely pathogenic variants (of which 36.3% were in BRCA1/2), 25 (25.8%) with variants of unknown significance (VUS), and 61 (62.9%) with benign or likely benign results. The mean cancer-related distress score (scale from 15 to 60, higher score indicates higher levels of distress) was 32.78 (SD 9.74) at baseline and 26.5 (SD 8.9) after receiving genetic testing results (p = 0.002). Genetic test results informed cancer treatment decisions regarding medications and surgery in 15% and 13% of patients, respectively, the majority of which were breast cancer patients. Conclusions: As genetic testing is more frequently used for clinical decision-making it is important to develop ways to efficiently integrate POC testing in the oncology clinics. We demonstrated that POC genetic testing for breast and gynecologic cancers is feasible and can inform clinical decision-making.

The State of Genomic Health Care and Cancer Are We Going Two Steps Forward and One Step Backward?

2011 ◽  
Vol 29 (1) ◽  
pp. 73-97 ◽  
Author(s):  
Karen E. Greco ◽  
Suzanne M. Mahon
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Health Care Providers ◽  
The State ◽  
Access To Information ◽  
Care Providers ◽  
Genomic Information ◽  
Genetic Tests ◽  
Common Diseases ◽  
One Step

As the application of genomic information and technology crosses the horizon of health care into our everyday lives, expanding genomic knowledge continues to affect how health care services are defined and delivered. Genomic discoveries have led to enhanced clinical capabilities to predict susceptibility to common diseases and conditions such as cancer, diabetes, cardiovascular disease, and Alzheimer's disease. Hundreds of genetic tests are now available that can identify individuals who carry one or more gene mutations that increase their risk of developing cancer or other common diseases. Increased availability and directto-consumer marketing of genetic testing is moving genetic testing away from trained genetics health professionals and into the hands of primary care providers and consumers. Genetic tests available on the Internet are being directly marketed to individuals, who can order these tests and receive a report of their risk for numerous health conditions and diseases. Health care providers are expected to interpret these test results, evaluate their accuracy, address the psychosocial consequences of those distressed by receiving their results, and translate genomic information into effective care. However, as we move two steps forward, we are also moving one step backward because many health care providers are unprepared for this genomic revolution. A number of international education, practice, and policy efforts are underway to address the challenges health care providers face in providing competent genomic health care in the context of unprecedented access to information, technology, and global communication. Efforts to integrate standard of care guidelines into electronic medical records increases health care providers' access to information for individuals at risk for or diagnosed with a genomic condition. Development of genomic competencies for health care providers has led to increased genomic content in academic programs. These and other efforts will keep the state of genomic health care stepping forward as we face the challenges of health care in the genomic era.

scholarly journals Cost Savings and Reduced Health Care Utilization Associated with Participation in a Digital Diabetes Prevention Program in an Adult Workforce Population

2020 ◽  
Vol 7 (2) ◽  
Author(s):  
Cynthia Castro Sweet ◽  
Carolyn Bradner Jasik ◽  
Amy Diebold ◽  
Ashley DuPuis ◽  
Bryan Jendretzke
Keyword(s):  
Health Care ◽  
Prevention Program ◽  
Diabetes Prevention ◽  
Claims Data ◽  
Hospital Admissions ◽  
Statistical Significance ◽  
Cost Savings ◽  
Diabetes Prevention Program ◽  
Program Delivery ◽  
The Impact

Background: Though in-person delivery of the Diabetes Prevention Program (DPP) has demonstrated medical cost savings, the economic impact of digital programs is not as well understood. Objective: This study examines the impact of a digital DPP program on reducing all-cause health care costs and utilization among 2027 adult participants at 12 months. Methods: A longitudinal, observational analysis of health care claims data was conducted on a workforce population who participated in a digital diabetes prevention program. Differences in utilization and costs from the year prior to program delivery through 1 year after enrollment were calculated using medical claims data for digital DPP participants compared to a propensity matched cohort in a differences-in-differences model. Results: At 1 year, the digital DPP population had a reduction in all-cause health care spend of US$1169 per participant relative to the comparison group (P = 0.01), with US$699 of that savings coming from reduced inpatient spend (P = 0.001). Cost savings were driven by fewer hospital admissions and shorter length of stay (P < 0.001). No other significant results in cost differences were detected. There was a trend toward savings extending into the second year, but the savings did not reach statistical significance. Conclusions: These results demonstrated significant short-term health care cost savings at 1 year associated with digital DPP program delivery.

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