The Advantages and Challenges of Testing Children for Heritable Predisposition to Cancer

2016 ◽  
pp. 251-269 ◽  
Author(s):  
Chimene Kesserwan ◽  
Lainie Friedman Ross ◽  
Angela R. Bradbury ◽  
Kim E. Nichols
Keyword(s):  
Genetic Testing ◽  
Health Care Providers ◽  
Future Research ◽  
Care Providers ◽  
Best Interest ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Whole Exome ◽  
Great Debate ◽  
Psychological Harm

The increased application of germline genetic testing is expanding our understanding of the risk factors associated with childhood cancer development, and, in some cases, such testing is also informing clinical management. Nonetheless, the incorporation of genetic testing into the pediatric oncology setting is complex and associated with many ethical and practical challenges. The decision as to whether to pursue clinical genetic testing for hereditary cancer predisposition for children should always be guided by the best interest of the child. Despite this fundamental ethical principle, patients, parents, and health care providers may differ in their opinions. Clinical genetic testing to detect the presence of predisposition syndromes associated with childhood-onset cancers, particularly those for which surveillance and preventive measures have proven to enhance outcome, is currently well accepted. On the other hand, clinical genetic testing of children for syndromes associated with adult-onset cancers has raised many concerns about the potential for psychological harm and disrespect of patient autonomy. As a consequence, such testing is not encouraged. The challenges surrounding germline genetic testing are further complicated when testing is done in the research setting and/or when it involves whole-exome or whole-genome sequencing approaches, which can uncover genetic variants that may or may not be associated with the disease under study. Accordingly, there is great debate around these processes and the most appropriate approaches regarding the return of test results. Future research is needed to enhance knowledge about how best to incorporate genomic information into clinical practice.

Abstract 16468: Results of Research Genetic Testing in Pediatric Cardiomyopathy Patients Justify Broader Clinical Genetic Testing

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Stephanie M Ware ◽  
Steven E Lipshultz ◽  
Steven D Colan ◽  
Ling Shi ◽  
Charles E Canter ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Whole Exome ◽  
Pediatric Cardiomyopathy ◽  
History Of

Introduction: Pediatric cardiomyopathies are genetically heterogeneous diseases with high risk of death or cardiac transplant. Despite progress in identifying causes, the majority of cases remain idiopathic. Currrently, genetic testing is not performed in all children with cardiomyopathy. Gene identification leads to better individual risk stratification and has the potential to stimulate the development of therapies based on the underlying mutation. The aim of this study is to identify genetic mutations in pediatric cardiomyopathy patients using whole exome sequencing. Hypothesis: Sarcomeric mutations are under-diagnosed causes of all forms of cardiomyopathy in children. Methods: Probands with cardiomyopathy were recruited from 11 institutions. Results of clinical genetic testing prior to enrollment were collected. Whole exome sequencing was performed and mutations were identified in 35 genes currently available on clinical genetic testing panels. Results: The initial 154 probands subjected to exome included 78 patients with DCM, 43 with HCM, 14 with RCM, and 19 with LVNC, mixed, or unknown types. Familial disease was present in 38% and the remainder were idiopathic. Twenty-seven percent had positive clinical genetic testing prior to enrollment. Exome testing identified mutations in 38 subjects who had not had clinical testing, increasing the cohort positive testing rate to 55% (DCM, 34.6%; HCM, 74.4%; RCM, 71.4%). Forty-five percent of subjects with no family history of disease had an identifiable mutation. Conclusions: Pediatric cardiomyopathy patients have a high incidence of mutations that can be identified by clinically available genetic testing. Lack of a family history of cardiomyopathy was not predictive of normal genetic testing. These results support the broader use of genetic testing in pediatric patients with all functional phenotypes of cardiomyopathy to identify disease causation allowing better family risk stratification.

scholarly journals Új módszertani lehetőségek és ezek alkalmazása a hormonális rendszer daganatainak genetikai kivizsgálásában

2015 ◽  
Vol 156 (51) ◽  
pp. 2063-2069
Author(s):  
Attila Patócs ◽  
István Likó ◽  
Henriett Butz ◽  
Kornélia Baghy ◽  
Károly Rácz
Keyword(s):  
Genetic Testing ◽  
Ethical Issues ◽  
Genetic Alterations ◽  
Clinical Genetic ◽  
Patients With Cancer ◽  
Clinical Genetic Testing ◽  
Technical Developments ◽  
Whole Exome ◽  
Genetically Determined ◽  
Genome Scale

The technical developments leading to revolution in clinical genetic testing offer new approaches for patients with cancer. From one mutation or one gene approach the scale of genetic testing moved to whole exome or whole genome scale. It is well known that many tumours are genetically determined ans they are part of familial tumour syndromes. In addition, some mutations indicate specific molecular targeted therapies. Although sampling and sample preparation are different for testing germline and somatic mutations, the technical background of the analysis is the same. The aim of clinical genetic testing is to identify patients who are carriers of disease-causing mutations or to test tumour tissue for the presence of genetic alterations which may be targets for therapeutic approaches. In this review the authors summarize novel possibilities offered by next-generation sequencing in clinical genetic testing of patients with endocrine tumours. In addition, the authors review recent guidelines on technical and ethical issues related to these novel methods. Orv. Hetil., 2015, 156(51), 2063–2069.

scholarly journals Is it acceptable to contact an anonymous egg donor to facilitate diagnostic genetic testing for the donor-conceived child?

2019 ◽  
Vol 45 (6) ◽  
pp. 357-360 ◽  
Author(s):  
Rachel Horton ◽  
Benjamin Bell ◽  
Angela Fenwick ◽  
Anneke M Lucassen
Keyword(s):  
Genetic Testing ◽  
Dynamic Process ◽  
Rapid Evolution ◽  
Future Research ◽  
Clinical Genetic ◽  
Consent Forms ◽  
Clinical Genetic Testing ◽  
Egg Donor ◽  
Diagnostic Genetic Testing ◽  
Do So

We discuss a case where medically optimal investigations of health problems in a donor-conceived child would require their egg donor to participate in genetic testing. We argue that it would be justified to contact the egg donor to ask whether she would consider this, despite her indicating on a historical consent form that she did not wish to take part in future research and that she did not wish to be informed if she was found to be a carrier of a ‘harmful inherited condition’. We suggest that we cannot conjecture what her current answer might be if, by participating in clinical genetic testing, she might help reach a diagnosis for the donor-conceived child. At the point that she made choices regarding future contact, it was not yet evident that the interests of the donor-conceived child might be compromised by her answers, as it was not foreseen that the egg donor’s genome might one day have the potential to enable diagnosis for this child. Fertility consent forms tend to be conceptualised as representing incontrovertible historical boundaries, but we argue that rapid evolution in genomic practice means that consent in such cases is better seen as an ongoing and dynamic process. It cannot be possible to compel the donor to aid in the diagnosis of the donor-conceived child, but she should be given the opportunity to do so.

scholarly journals Cancer Genetic Susceptibility Testing: Ethical and Policy Implications for Future Research and Clinical Practice

1997 ◽  
Vol 25 (4) ◽  
pp. 243-251 ◽  
Author(s):  
Benjamin S. Wilfond ◽  
Karen H. Rothenberg ◽  
Elizabeth J. Thomson ◽  
Caryn Lerman
Keyword(s):  
Genetic Testing ◽  
Health Care Providers ◽  
Cancer Susceptibility ◽  
Policy Implications ◽  
Future Research ◽  
Care Providers ◽  
Cancer Genetic ◽  
The Public ◽  
Biotechnology Companies ◽  
Genetic Susceptibility Testing

Genetic testing for cancer susceptibility is an application of biotechnology that has the potential both to improve the psychosocial and physical wellbeing of the population and to cause significant psychosocia1 and physical harms. In spite of the uncertain value of genetic testing, it has captured the interest of biotechnology companies, researchers, health care providers, and the public. As more tests become feasible, pressure may increase to make the tests available and reimbursable. Both the benefits and harms of these tests lie not as much in the tests themselves, as in their power to predict or alter the future. The value of the tests does not derive from the information per se, but from the ability to communicate effectively the information to patients and providers, and the behavioral responses of patients, providers, and others to this information.

Acceptance of the HPV Vaccine in a Multiethnic Sample of Latinx Mothers

2021 ◽  
Vol 31 (3) ◽  
pp. 472-483
Author(s):  
Ana Cristina Lindsay ◽  
Madelyne J. Valdez ◽  
Denisse Delgado ◽  
Emily Restrepo ◽  
Yessica M. Guzmán ◽  
...  
Keyword(s):  
Health Care Providers ◽  
Thematic Analysis ◽  
Hpv Vaccine ◽  
Female Adolescents ◽  
Future Research ◽  
Care Providers ◽  
Foreign Born ◽  
Structured Interviews ◽  
Direct Benefits ◽  
Multiethnic Sample

This descriptive qualitative study explored Latinx mothers’ acceptance of the human papillomavirus (HPV) vaccine for their adolescent children. Data were collected through individual, semi-structured interviews and analyzed using a hybrid method of thematic analysis that incorporated deductive and inductive approaches. Twenty-two ( n = 22), mostly foreign-born, Latinx mothers of male and female adolescents participated in the study. Three main themes and nine subthemes emerged from the analyses. Findings identified the need for increased efforts to raise awareness and knowledge among Latinx mothers of the direct benefits of the HPV vaccine for sons, including stressing prevention of HPV-associated cancers in males. Findings also underscore the need for improved health care providers’ communication and recommendation of the HPV vaccine for Latinx adolescent males. Future research should intervene upon the study’s findings to address barriers that remain and affect Latinx mothers’ acceptance and uptake of the HPV vaccine for their children, in particular their sons.

Ways that nurse practitioner students self-explain during diagnostic reasoning

Diagnosis ◽  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Leah Burt ◽  
Susan Corbridge ◽  
Colleen Corte ◽  
Laurie Quinn ◽  
Lorna Finnegan ◽  
...  
Keyword(s):  
Problem Solving ◽  
Health Care Providers ◽  
Nurse Practitioner ◽  
Descriptive Analysis ◽  
Diagnostic Errors ◽  
Diagnostic Reasoning ◽  
Knowledge Structures ◽  
Future Research ◽  
Biological Knowledge ◽  
Care Providers

Abstract Objectives An important step in mitigating the burden of diagnostic errors is strengthening diagnostic reasoning among health care providers. A promising way forward is through self-explanation, the purposeful technique of generating self-directed explanations to process novel information while problem-solving. Self-explanation actively improves knowledge structures within learners’ memories, facilitating problem-solving accuracy and acquisition of knowledge. When students self-explain, they make sense of information in a variety of unique ways, ranging from simple restatements to multidimensional thoughts. Successful problem-solvers frequently use specific, high-quality self-explanation types. The unique types of self-explanation present among nurse practitioner (NP) student diagnosticians have yet to be explored. This study explores the question: How do NP students self-explain during diagnostic reasoning? Methods Thirty-seven Family NP students enrolled in the Doctor of Nursing Practice program at a large, Midwestern U.S. university diagnosed three written case studies while self-explaining. Dual methodology content analyses facilitated both deductive and qualitative descriptive analysis. Results Categories emerged describing the unique ways that NP student diagnosticians self-explain. Nine categories of inference self-explanations included clinical and biological foci. Eight categories of non-inference self-explanations monitored students’ understanding of clinical data and reflect shallow information processing. Conclusions Findings extend the understanding of self-explanation use during diagnostic reasoning by affording a glimpse into fine-grained knowledge structures of NP students. NP students apply both clinical and biological knowledge, actively improving immature knowledge structures. Future research should examine relationships between categories of self-explanation and markers of diagnostic success, a step in developing prompted self-explanation learning interventions.

scholarly journals Accuracy of State-Level Surveillance during Emerging Outbreaks of Respiratory Viruses: A Model-Based Assessment

2021 ◽  
pp. 0272989X2110222
Author(s):  
Yuwen Gu ◽  
Elise DeDoncker ◽  
Richard VanEnk ◽  
Rajib Paul ◽  
Susan Peters ◽  
...  
Keyword(s):  
Growth Rate ◽  
Data Collection ◽  
Disease Progression ◽  
Health Care Providers ◽  
Growth Rates ◽  
State Level ◽  
Future Research ◽  
Care Providers ◽  
State Surveillance ◽  
First Come First Serve

It is long perceived that the more data collection, the more knowledge emerges about the real disease progression. During emergencies like the H1N1 and the severe acute respiratory syndrome coronavirus 2 pandemics, public health surveillance requested increased testing to address the exacerbated demand. However, it is currently unknown how accurately surveillance portrays disease progression through incidence and confirmed case trends. State surveillance, unlike commercial testing, can process specimens based on the upcoming demand (e.g., with testing restrictions). Hence, proper assessment of accuracy may lead to improvements for a robust infrastructure. Using the H1N1 pandemic experience, we developed a simulation that models the true unobserved influenza incidence trend in the State of Michigan, as well as trends observed at different data collection points of the surveillance system. We calculated the growth rate, or speed at which each trend increases during the pandemic growth phase, and we performed statistical experiments to assess the biases (or differences) between growth rates of unobserved and observed trends. We highlight the following results: 1) emergency-driven high-risk perception increases reporting, which leads to reduction of biases in the growth rates; 2) the best predicted growth rates are those estimated from the trend of specimens submitted to the surveillance point that receives reports from a variety of health care providers; and 3) under several criteria to queue specimens for viral subtyping with limited capacity, the best-performing criterion was to queue first-come, first-serve restricted to specimens with higher hospitalization risk. Under this criterion, the lab released capacity to subtype specimens for each day in the trend, which reduced the growth rate bias the most compared to other queuing criteria. Future research should investigate additional restrictions to the queue.

scholarly journals Exploring the Social Networks’ Use in the Health-Care Industry: A Multi-Level Analysis

2021 ◽  
Vol 18 (14) ◽  
pp. 7295
Author(s):  
Tommasina Pianese ◽  
Patrizia Belfiore
Keyword(s):  
Health Care ◽  
Social Networks ◽  
Health Care Providers ◽  
Health Care Industry ◽  
Future Research ◽  
Great Level ◽  
Care Providers ◽  
Care Industry ◽  
Multi Level ◽  
Video And Audio

The application of social networks in the health domain has become increasingly prevalent. They are web-based technologies which bring together a group of people and health-care providers having in common health-related interests, who share text, image, video and audio contents and interact with each other. This explains the increasing amount of attention paid to this topic by researchers who have investigated a variety of issues dealing with the specific applications in the health-care industry. The aim of this study is to systematize this fragmented body of literature, and provide a comprehensive and multi-level overview of the studies that has been carried out to date on social network uses in healthcare, taking into account the great level of diversity that characterizes this industry. To this end, we conduct a scoping review enabling to identify the major research streams, whose aggregate knowledge are discussed according to three levels of analysis that reflect the viewpoints of the major actors using social networks for health-care purposes, i.e., governments, health-care providers (including health-care organizations and professionals) and social networks’ users (including ill patients and general public). We conclude by proposing directions for future research.

scholarly journals Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program

2021 ◽  
Vol 11 (6) ◽  
pp. 543
Author(s):  
Anna DiNucci ◽  
Nora B. Henrikson ◽  
M. Cabell Jonas ◽  
Sundeep Basra ◽  
Paula Blasi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Screening Program ◽  
Qualitative Interviews ◽  
Care Providers ◽  
Genetic Privacy ◽  
Program Outcomes ◽  
Cascade Testing ◽  
Program Costs

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. “Traceback” cascade testing —outreach to potential probands and relatives—is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program’s feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program’s feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.

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