scholarly journals Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine

2019 ◽  
Vol 10 (5) ◽  
pp. a036657 ◽  
Author(s):  
Laura Hercher
Keyword(s):  
Genetic Testing ◽  
Genomic Medicine ◽  
New Era

scholarly journals Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

2021 ◽  
Author(s):  
Michael Abbott ◽  
Lynda McKenzie ◽  
Blanca Viridiana Guizar Moran ◽  
Sebastian Heidenreich ◽  
Rodolfo Hernández ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Rare Diseases ◽  
Genomic Medicine ◽  
Future Research ◽  
Clinical Genetics ◽  
Whole Genome ◽  
Peace Of Mind

AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

scholarly journals How do non-geneticist physicians deal with genetic tests? A qualitative analysis

2021 ◽  
Author(s):  
Laurent Pasquier ◽  
Guy Minguet ◽  
Sylvie Moisdon-Chataigner ◽  
Pascal Jarno ◽  
Philippe Denizeau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Social Issues ◽  
Clinical Skills ◽  
Rapid Development ◽  
Genomic Medicine ◽  
Genetic Tests ◽  
Simple Fact ◽  
Medical Specialties ◽  
Management Procedure ◽  
Testing Practices

AbstractGenetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.

scholarly journals Current Policy Challenges in Genomic Medicine

2019 ◽  
Vol 66 (1) ◽  
pp. 61-67 ◽  
Author(s):  
Roger D Klein
Keyword(s):  
Genetic Testing ◽  
Molecular Genetic ◽  
Genomic Medicine ◽  
Patent Law ◽  
Genomic Testing ◽  
Molecular Genetic Testing ◽  
Gene Sequences ◽  
Gene Patents ◽  
Legislative Proposal ◽  
Next Generation Sequencing Ngs

Abstract BACKGROUND Molecular genetic testing has raised a variety of policy issues, ranging from privacy to reimbursement. Recently, payment policies have become of paramount importance as Medicare implemented the first significant change to test pricing since 1984 and announced a broad national coverage policy for the use of next-generation sequencing (NGS) in cancer patients that contains significant restrictions. Regulatory and oversight concerns have been important topics for discussion as the US Food and Drug Administration (FDA), Congress, and stakeholders have focused on new approaches to regulation of laboratory-developed tests (LDTs). Patents on gene sequences and relationships between genetic variants and clinical phenotypes have been points of contention since the field's inception. Two Supreme Court cases invalidated patents on gene sequences and biological relationships, ushering in the era of NGS and precision medicine. However, a recent legislative proposal threatens to reverse these gains and restore gene patents as barriers to progress in genetic and genomic testing and the implementation of genomic medicine. CONTENT This review discusses current issues in payment policy, laboratory oversight, and gene patenting and their potential impacts on genetic and genomic testing. SUMMARY Coverage and reimbursement policies present serious challenges to genetic and genomic testing. The potential for FDA regulation of LDTs looms as a significant threat to diagnostic innovation, patient access, and the viability of molecular genetic testing laboratories. Changes in patent law could cause gene patents to reemerge as barriers to the advancement of genomic medicine.

Current Approaches to Germline Cancer Genetic Testing

2020 ◽  
Vol 71 (1) ◽  
pp. 85-102
Author(s):  
Elena M. Stoffel ◽  
John M. Carethers
Keyword(s):  
Genetic Testing ◽  
Clinical Education ◽  
Genetic Predisposition ◽  
Genomic Medicine ◽  
Cancer Therapies ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Sequencing Technologies ◽  
Predisposition Genes ◽  
Generation Sequencing

The prevalence of genetic predisposition to cancer is greater than initially appreciated, yet most affected individuals remain undiagnosed. Deleterious germline variants in cancer predisposition genes are implicated in 1 in 10 cases of advanced cancer. Next-generation sequencing technologies have made germline and tumor DNA sequencing more accessible and less expensive. Expanded access to clinical genetic testing will improve identification of individuals with genetic predisposition to cancer and provide opportunities to effectively reduce morbidity through precision cancer therapies and surveillance. Cross-disciplinary clinical education in genomic medicine is needed to translate advances in genomic medicine into improved health outcomes.

Sporadic vestibular schwannoma: a molecular testing summary

2020 ◽  
pp. jmedgenet-2020-107022
Author(s):  
Katherine V Sadler ◽  
Naomi L Bowers ◽  
Claire Hartley ◽  
Philip T Smith ◽  
Simon Tobi ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Vestibular Schwannoma ◽  
Dna Analysis ◽  
Genomic Medicine ◽  
Familial Risk ◽  
Neurofibromatosis Type ◽  
Molecular Testing ◽  
Pathogenic Variants ◽  
Patient Subgroups

ObjectivesCases of sporadic vestibular schwannoma (sVS) have a low rate of association with germline pathogenic variants. However, some individuals with sVS can represent undetected cases of neurofibromatosis type 2 (NF2) or schwannomatosis. Earlier identification of patients with these syndromes can facilitate more accurate familial risk prediction and prognosis.MethodsCases of sVS were ascertained from a local register at the Manchester Centre for Genomic Medicine. Genetic analysis was conducted in NF2 on blood samples for all patients, and tumour DNA samples when available. LZTR1 and SMARCB1 screening was also performed in patient subgroups.ResultsAge at genetic testing for vestibular schwannoma (VS) presentation was younger in comparison with previous literature, a bias resulting from updated genetic testing recommendations. Mosaic or constitutional germline NF2 variants were confirmed in 2% of patients. Pathogenic germline variants in LZTR1 were found in 3% of all tested patients, with a higher rate of 5% in patients <30 years. No pathogenic SMARCB1 variants were identified within the cohort. Considering all individuals who received tumour DNA analysis, 69% of patients were found to possess two somatic pathogenic NF2 variants, including those with germline LZTR1 pathogenic variants.ConclusionsUndiagnosed schwannoma predisposition may account for a significant minority of apparently sVS cases, especially at lower presentation ages. Loss of NF2 function is a common event in VS tumours and may represent a targetable common pathway in VS tumourigenesis. These data also support the multi-hit mechanism of LZTR1-associated VS tumourigenesis.

scholarly journals Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

2020 ◽  
Vol 10 (4) ◽  
pp. 165
Author(s):  
Amy A. Lemke ◽  
Laura M. Amendola ◽  
Kristine Kuchta ◽  
Henry M. Dunnenberger ◽  
Jennifer Thompson ◽  
...  
Keyword(s):  
Primary Care ◽  
Mixed Methods ◽  
Genetic Testing ◽  
Data Privacy ◽  
Qualitative Interviews ◽  
Genomic Medicine ◽  
Primary Care Providers ◽  
The United States ◽  
Care Physician ◽  
Care Providers

The scalable delivery of genomic medicine requires collaboration between genetics and non-genetics providers. Thus, it is essential to investigate and address the perceived value of and barriers to incorporating genetic testing into the clinical practice of primary care providers (PCPs). We used a mixed-methods approach of qualitative interviews and surveys to explore the experience of PCPs involved in the pilot DNA-10K population genetic testing program. Similar to previous research, PCPs reported low confidence with tasks related to ordering, interpreting and managing the results of genetic tests, and identified the need for additional education. PCPs endorsed high levels of utility for patients and their families but noted logistical challenges to incorporating genetic testing into their practice. Overall PCPs were not familiar with the United States’ Genetic Information Nondiscrimination Act and they expressed high levels of concern for patient data privacy and potential insurance discrimination. This PCP feedback led to the development and implementation of several processes to improve the PCP experience with the DNA-10K program. These results contribute to the knowledge base regarding genomic implementation using a mixed provider model and may be beneficial for institutions developing similar clinical programs.

The brave new era of human genetic testing

BioEssays ◽  
2008 ◽  
Vol 30 (11-12) ◽  
pp. 1246-1251 ◽  
Author(s):  
Hans-Jürgen Bandelt ◽  
Yong-Gang Yao ◽  
Martin B. Richards ◽  
Antonio Salas
Keyword(s):  
Genetic Testing ◽  
New Era

scholarly journals Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

2016 ◽  
Author(s):  
Angela George ◽  
Daniel Riddell ◽  
Sheila Seal ◽  
Sabrina Talukdar ◽  
Shazia Mahamdallie ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Large Scale ◽  
Brca Mutation ◽  
Genomic Medicine ◽  
Cost Savings ◽  
Brca Testing ◽  
Clinical Genetic ◽  
Gene Testing

SUMMARYBackground:Advances in DNA sequencing have made gene testing fast and affordable, but adaptation of clinical services to capitalise on this for patient benefit has been slow. Ovarian cancer exemplifies limitations of current systems and potential benefits of increased gene testing. Approximately 15% of ovarian cancer patients have a germline mutation in BRCA1 or BRCA2 (collectively termed ‘BRCA’) and this has substantial implications for their personal management and that of their relatives. However, in most countries implementation of BRCA testing in ovarian cancer has been inconsistent and largely unsuccessful.Methods:We developed a mainstream pathway in which BRCA testing was undertaken by cancer team members after 30 minutes online training. Patients with a mutation were sent a genetic appointment with their results. Cascade testing to relatives was performed via standard clinical genetic procedures.Findings:207 women with ovarian cancer were offered gene testing through the mainstream pathway and all accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease including 97% (32/33) women with a mutation. All mutation-positive women and ~3.5 relatives per family have been seen in genetics. Patient and clinician feedback was very positive. >95% found the pathway to be simple and effective. The pathway offers considerable reduction in time (~5-fold) and resource requirements (~13-fold) compared to the traditional genetic pathway. We estimate it would deliver £2.6M NHS cost savings per year, and would allow implementation of national testing recommendations with existing infrastructure.Interpretation:Mainstream genetic testing is effective, efficient and patient-centred and offers a mechanism for large-scale implementation of BRCA gene testing in cancer patients. The principles could be applied in many other countries and to many other areas of genomic medicine.

scholarly journals When Should Genetic Testing be Performed in Epilepsy Patients?

2017 ◽  
Vol 17 (1) ◽  
pp. 16-22 ◽  
Author(s):  
Annapurna Poduri
Keyword(s):  
Genetic Testing ◽  
Annual Meeting ◽  
Genomic Medicine ◽  
Rational Approach ◽  
Society Annual ◽  
Patients With Epilepsy

This review is a summary of a talk presented at the 2015 American Epilepsy Society Annual Meeting. Its purposes are 1) to review developments in epilepsy genetics, 2) to discuss which groups of patients with epilepsy might benefit from genetic testing, and 3) to present a rational approach to genetic testing in epilepsy in the rapidly evolving era of genomic medicine.

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