Direct-to-Consumer Genetic Testing

2012 ◽  
Vol 5 (1) ◽  
pp. 35-67 ◽  
Author(s):  
Richard A. Stein

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.

2011 ◽  
Vol 29 (1) ◽  
pp. 73-97 ◽  
Author(s):  
Karen E. Greco ◽  
Suzanne M. Mahon

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.


Author(s):  
Safa Elkefi ◽  
Avishek Choudhury ◽  
Olga Strachna ◽  
Onur Asan

PURPOSE Early detection of cancer risk is essential as it is associated with a higher chance of survival, more successful treatment, and improved quality of life. Genetic testing helps at-risk patients estimate the likelihood of developing cancer in a lifetime. This study aims to indentify the factors (perceived susceptibility, severity, benefits, and self-efficacy) that impact one's decision to take the genetic test. METHODS We examined the impacts of different factors of the health belief model on the engagement of patients in genetic testing using data from the National Cancer Institute's 2020 cross-sectional nationally representative data published in 2021. Complete surveys were answered by 3,865 participants (weighted population size = 253,815,197). All estimates were weighted to be nationally representative of the US population using the jackknife weighting method for parameter estimation. We used multivariable logistic regression to test our hypotheses for patients who have taken the genetic test for cancer risk detection. We adjusted the multivariate model for age, education, income, race, sex, cancer history, familial cancer history, and education. RESULTS We tested five hypotheses using the health belief model. Respondents who had genetic testing were more likely to rely on their health care providers and genetic counselors to make their decisions. Respondents who had genetic tests also reported less reliability on other sources than doctors: for the internet and social media (odds ratio = 0.33; P < .001) and for journals and magazines (odds ratio = 0.48; P = .007). CONCLUSION The findings show that patients generally rely on suggestions from their health care providers and counselors in genetic testing decisions. These findings also indicate that health care providers play a critical role in helping patients decide whether to use genetic testing to detect cancer risk in the early stages.


Curationis ◽  
2015 ◽  
Vol 38 (2) ◽  
Author(s):  
Nokulunga H. Cele ◽  
Maureen N. Sibiya ◽  
Dudu G. Sokhela

Background: Homosexual patients are affected by social factors in their environment, and as a result may not have easy access to existing health care services. Prejudice against homosexuality and homosexual patients remains a barrier to them seeking appropriate healthcare. The concern is that lesbians and gays might delay or avoid seeking health care when they need it because of past discrimination or perceived homophobia within the health care thereby putting their health at risk.Aim of the study: The aim of the study was to explore and describe the experiences of homosexual patients utilising primary health care (PHC) services in Umlazi in the province ofKwaZulu-Natal (KZN).Method: A qualitative, exploratory, descriptive study was conducted which was contextual innature. Semi-structured interviews were conducted with 12 participants. The findings of this study were analysed using content analysis.Results: Two major themes emerged from the data analysis, namely, prejudice against homosexual patients by health care providers and other patients at the primary health care facilities, and, homophobic behaviour from primary health care personnel.Conclusion: Participants experienced prejudice and homophobic behaviour in the course of utilising PHC clinics in Umlazi, which created a barrier to their utilisation of health services located there. Nursing education institutions, in collaboration with the National Department of Health, should introduce homosexuality and anti-homophobia education programmes during the pre-service and in-service education period. Such programmes will help to familiarise health care providers with the health care needs of homosexual patients and may decrease homophobic attitudes.


2002 ◽  
Vol 63 (3) ◽  
pp. 134-139
Author(s):  
Kathleen M. Martin

The premise of the presentation is a challenge to health care providers to examine the quality of services currently provided in health care facilities across the country. While the Canadian health care system is under scrutiny with numerous reviews and commissions, the underlying question is: are the structural changes making a difference? We need to consider the recommendations in the latest report from the Institute of Medicine, Crossing the Quality Chasm. The report calls for a sweeping redesign and suggests a set of ten new rules to guide patient/clinician relationships. Dietitians must take the lead on implementation of systematic changes, model the way and get involved in the necessary changes. As the report suggests, the gap between where we are and where we need to go in providing quality health care services is not just a crack; it is in fact a chasm.


2020 ◽  
Vol 13 ◽  
pp. 175628482093518
Author(s):  
Vincenzo Bove ◽  
Tommaso Schepis ◽  
Ivo Boškoski ◽  
Rosario Landi ◽  
Beatrice Orlandini ◽  
...  

On 31 December 2019, the WHO China Country Office was informed of cases of pneumonia of unknown etiology detected in Wuhan (Hubei Province of China). In January 2020, a new coronavirus named SARS-CoV2 was isolated and, since that time, SARS-CoV2 related disease (COVID-19) rapidly spread all over the world becoming pandemic in March 2020. The COVID-19 outbreak dramatically affected the public-health and the health-care facilities organization. Bilio-pancreatic endoscopy is considered a high-risk procedure for cross-contamination and, even though it is not directly involved in COVID-19 diagnosis and management, its reorganization is crucial to guarantee high standards of care minimizing the risk of SARS-CoV2 transmission among patients and health-care providers. Bilio-pancreatic endoscopic procedures often require a short physical distance between the endoscopist and the patient for a long period of time, a frequent exchange of devices, the involvement of a large number of personnel, the use of complex endoscopes difficult to reprocess. On this basis, endoscopic units should take precautions with adjusted management of bilio-pancreatic endoscopy. The aim of this article is to discuss the approach to bilio-pancreatic endoscopy in the COVID-19 era with focus on diagnostic algorithms, indications, management of the endoscopic room, proper use of Personal Protective Equipment and correct reprocessing of instrumentation.


1996 ◽  
Vol 19 (2) ◽  
pp. 94 ◽  
Author(s):  
Tin Kin Lee

Hospitals and other health care providers are being squeezed by decliningreimbursement and capitated revenues. As this happens they are looking to expandinto rapidly developing and newly industrialised countries. This article will focus onthe People?s Republic of China as a country with opportunities for developing privatehospitals and health care facilities.


2020 ◽  
Vol 31 (2) ◽  
pp. 59-69
Author(s):  
Abdu J. Bhombo ◽  
Oscar Mwashiuya ◽  
Wilhellmuss I. Mauka ◽  
Elineema Meda ◽  
Iragi Ngerageza ◽  
...  

Background: Blood transfusion is a lifesaving therapy which is linked to the adverse outcome when given inappropriately. Inadequate knowledge and skills among health care providers have been reported to contribute to safety issues for recipients and wastage of the precious resource. This study was conducted to determine the impact of training of health care providers in Tanzania on improving the knowledge regarding the transfusion of blood and blood components.Methodology: This was a cross-sectional study which used secondary data from pre and post training assessment questionnaire whereby trainees answered the same set of questions before training (pre-test) and after training (post-test). The questionnaire consisted of two Likert scale questions and eight YES/NO questions which assessed the perception of clinicians, nurses and Laboratory personnel on blood transfusion practices. Moreover, there were thirty multiple-choice questions for assessment of basic knowledge related to usage of blood and blood components.Results: One hundred and eleven (111) health care providers who attended training on blood transfusion were recruited into this study, out of which 72.1% (80/111) were from secondary health care facilities and 6.3% (7/111) were from tertiary health care facilities. The pre-test mean percent score was 32.8% (SD ±12.9%), while the post-test mean percent score was 56.6% (SD ±12.9%). The mean percentage of knowledge gain was 26.6% (SD±13.0%) and 27.1% (SD±12.5%) for health care providers and National Blood Transfusion Service staff respectively. It was observed that only 25.8% (24/93) and 19% (19/100) of participants were aware of the transfusion timing of various blood components and principles of platelet transfusion, respectively. Regarding bedside blood handling practices, only 52.9% (46/87) responded, ‘warm whole blood unit and packed red blood by putting under room temperature for 30 minutes and the majority of participants 63.1% (65/103) reported not to ask for consent before blood transfusion.Conclusion: There was a modest improvement in the knowledge on blood transfusion practice among participants. The overall performance of participants increased from 33% in the pre-test to 57% in the post-test. Therefore, this study has shown the positive impact of training for health care providers in improving their knowledge. We recommend regular on job training courses and mentorship program for health care providers for proficiency in clinical transfusion practice. Key words: Blood Transfusion, Training and Health care providers.


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