scholarly journals Recent developments in genetic/genomic medicine

2019 ◽  
Vol 133 (5) ◽  
pp. 697-708 ◽  
Author(s):  
Rachel H. Horton ◽  
Anneke M. Lucassen
Keyword(s):  
Genetic Testing ◽  
Treatment Options ◽  
Genomic Medicine ◽  
Healthcare Setting ◽  
Genomic Testing ◽  
Inpatient Setting ◽  
Technological Advances ◽  
Recent Developments ◽  
Unexpected Findings ◽  
Genetic Medicine

AbstractAdvances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

scholarly journals The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Graeme C. Black ◽  
◽  
Panagiotis Sergouniotis ◽  
Andrea Sodi ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Rare Diseases ◽  
Eye Diseases ◽  
Reference Network ◽  
Genomic Testing ◽  
Main Body ◽  
National Plan ◽  
Member States ◽  
Technological Advances ◽  
Number Of Patients

Abstract Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

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.

Introduction to genomics in primary care

2020 ◽  
pp. 175573802097405
Author(s):  
Alexandra Whiter ◽  
Eamonn Sheridan ◽  
Judith Hayward ◽  
Imran Rafi
Keyword(s):  
Primary Care ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Genomic Testing ◽  
Routine Clinical Care ◽  
Genomic Test ◽  
Medicine Service ◽  
Recent Developments ◽  
Primary Care Practitioners ◽  
Test Result

Advances in genomic technology and the launch of the NHS Genomic Medicine Service (GMS) in 2018 have firmly embedded genomic testing within routine clinical care. As the gateway to the NHS, primary care practitioners will be managing increasing numbers of patients who are eligible for genomic testing, or who present with their own, or a family member’s genomic test result. This article provides an overview of recent developments in the field of genomics, explains key concepts and terminology, and details the current organisation of the genomics services under the GMS. It also discusses some common presentations within primary care to highlight the relevance of genomics to frontline GPs.

scholarly journals Physician-Reported Benefits and Barriers to Clinical Implementation of Genomic Medicine: A Multi-Site IGNITE-Network Survey

2018 ◽  
Vol 8 (3) ◽  
pp. 24 ◽  
Author(s):  
Aniwaa Owusu Obeng ◽  
Kezhen Fei ◽  
Kenneth Levy ◽  
Amanda Elsey ◽  
Toni Pollin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Genomic Medicine ◽  
Clinical Implementation ◽  
Provider Attitudes ◽  
Potential Barriers ◽  
Risk Patients ◽  
Clinical Tools ◽  
Genetic Medicine ◽  
And Training

Genetic medicine is one of the key components of personalized medicine, but adoption in clinical practice is still limited. To understand potential barriers and provider attitudes, we surveyed 285 physicians from five Implementing GeNomics In pracTicE (IGNITE) sites about their perceptions as to the clinical utility of genetic data as well as their preparedness to integrate it into practice. These responses were also analyzed in comparison to the type of study occurring at the physicians’ institution (pharmacogenetics versus disease genetics). The majority believed that genetic testing is clinically useful; however, only a third believed that they had obtained adequate training to care for genetically “high-risk” patients. Physicians involved in pharmacogenetics initiatives were more favorable towards genetic testing applications; they found it to be clinically useful and felt more prepared and confident in their abilities to adopt it into their practice in comparison to those participating in disease genetics initiatives. These results suggest that investigators should explore which attributes of clinical pharmacogenetics (such as the use of simplified genetics-guided recommendations) can be implemented to improve attitudes and preparedness to implement disease genetics in care. Most physicians felt unprepared to use genetic information in their practice; accordingly, major steps should be taken to develop effective clinical tools and training strategies for physicians.

scholarly journals Serum Biomarkers for the Prediction of Hepatocellular Carcinoma

Cancers ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1681
Author(s):  
José Debes ◽  
Pablo Romagnoli ◽  
Jhon Prieto ◽  
Marco Arrese ◽  
Angelo Mattos ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Viral Infections ◽  
Treatment Options ◽  
Serum Biomarkers ◽  
Variable Degree ◽  
Protein Markers ◽  
Cytokines And Chemokines ◽  
Micro Rnas ◽  
Recent Developments ◽  
Metabolic Conditions

Hepatocellular carcinoma (HCC) is a leading cause of global cancer death. Major etiologies of HCC relate to chronic viral infections as well as metabolic conditions. The survival rate of people with HCC is very low and has been attributed to late diagnosis with limited treatment options. Combining ultrasound and the biomarker alpha-fetoprotein (AFP) is currently one of the most widely used screening combinations for HCC. However, the clinical utility of AFP is controversial, and the frequency and operator-dependence of ultrasound lead to a variable degree of sensitivity and specificity across the globe. In this review, we summarize recent developments in the search for non-invasive serum biomarkers for early detection of HCC to improve prognosis and outcome for patients. We focus on tumor-associated protein markers, immune mediators (cytokines and chemokines), and micro-RNAs in serum or circulating extracellular vesicles and examine their potential for clinical application.

AIRE mutation triggering acute liver failure: between genetic testing and treatment options

2021 ◽  
Author(s):  
Andrea Pietrobattista ◽  
Claudia Della Corte ◽  
Paola Francalanci ◽  
Francesca R. Lepri ◽  
Giuseppe Maggiore
Keyword(s):  
Genetic Testing ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Treatment Options

scholarly journals Personalized Decision Making on Genomic Testing in Early Breast Cancer: Expanding the MINDACT Trial with Decision-Analytic Modeling

2021 ◽  
pp. 0272989X2199117
Author(s):  
Ewout W. Steyerberg ◽  
Liesbeth C. de Wreede ◽  
David van Klaveren ◽  
Patrick M. M. Bossuyt
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Early Stage ◽  
Pragmatic Trial ◽  
Genomic Signature ◽  
Genomic Testing ◽  
Analytic Modeling ◽  
Clinical Risk ◽  
Genomic Test

Background Genomic tests may improve upon clinical risk estimation with traditional prognostic factors. We aimed to explore how evidence on the prognostic strength of a genomic signature (clinical validity) can contribute to individualized decision making on starting chemotherapy for women with breast cancer (clinical utility). Methods The MINDACT trial was a randomized trial that enrolled 6693 women with early-stage breast cancer. A 70-gene signature (Mammaprint) was used to estimate genomic risk, and clinical risk was estimated by a dichotomized version of the Adjuvant!Online risk calculator. Women with discordant risk results were randomized to the use of chemotherapy. We simulated the full risk distribution of these women and estimated individual benefit, assuming a constant relative effect of chemotherapy. Results The trial showed a prognostic effect of the genomic signature (adjusted hazard ratio 2.4). A decision-analytic modeling approach identified far fewer women as candidates for genetic testing (4% rather than 50%) and fewer benefiting from chemotherapy (3% rather than 27%) as compared with the MINDACT trial report. The selection of women benefitting from genetic testing and chemotherapy depended strongly on the required benefit from treatment and the assumed therapeutic effect of chemotherapy. Conclusions A high-quality pragmatic trial was insufficient to directly inform clinical practice on the utility of a genomic test for individual women. The indication for genomic testing may be far more limited than suggested by the MINDACT trial.

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 Technological advances in cardiac pacing and defibrillation

2019 ◽  
Vol 3 (Issue 3) ◽  
pp. 95
Author(s):  
Sok-Sithikun Bun ◽  
Fabien Squara ◽  
Didier Scarlatti ◽  
Guillaume Theodore ◽  
Decebal Gabriel Latcu ◽  
...  
Keyword(s):  
Femoral Vein ◽  
Cardiac Pacing ◽  
Half Century ◽  
His Bundle ◽  
His Bundle Pacing ◽  
Subcutaneous Defibrillator ◽  
Technological Advances ◽  
Recent Developments

Since more than a half century, cardiac pacing and defibrillation represent a field in constant evolution, and they have shown some great technological advances from its conception to its methods of insertion. In this review, the recent developments about the accesses for pacemakers and ICD will be described: the axillary and the femoral vein. The His bundle pacing and the advantages of the entirely subcutaneous defibrillator will also be presented.

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