Paying for Personalized Medicine

2016 ◽  
Author(s):  
Michael Snyder
Keyword(s):  
Personalized Medicine ◽  
Genome Sequencing ◽  
Genomic Medicine ◽  
Insurance Companies

Who pays for genome sequencing in treating disease? Although it can be easily argued that genome sequencing can be used beneficially, probably the biggest detriment to implementing genomic medicine is: Who pays? Presently, many insurance companies will reimburse for sequencing the tumor genomes of...

Trailblazing Precision Medicine in Europe: a joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

2021 ◽  
Author(s):  
Albrecht Stenzinger ◽  
Anders Edsjö ◽  
Carolin Ploeger ◽  
Mikaela Friedman ◽  
Stefan Fröhling ◽  
...  
Keyword(s):  
Personalized Medicine ◽  
Precision Medicine ◽  
Genomic Medicine

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 Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care

2021 ◽  
pp. 1-12
Author(s):  
Holly Etchegary ◽  
Daryl Pullman ◽  
Charlene Simmonds ◽  
Zoha Rabie ◽  
Proton Rahman
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Online Survey ◽  
Public Attitudes ◽  
Genetic Counselor ◽  
Genomic Medicine ◽  
Genomic Data ◽  
Whole Genome ◽  
The Public ◽  
Genomic Test

<b><i>Introduction:</i></b> The growth of global sequencing initiatives and commercial genomic test offerings suggests the public will increasingly be confronted with decisions about sequencing. Understanding public attitudes can assist efforts to integrate sequencing into care and inform the development of public education and outreach strategies. <b><i>Methods:</i></b> A 48-item online survey was advertised on Facebook in Eastern Canada and hosted on SurveyMonkey in late 2018. The survey measured public interest in whole genome sequencing and attitudes toward various aspects of sequencing using vignettes, scaled, and open-ended items. <b><i>Results:</i></b> While interest in sequencing was high, critical attitudes were observed. In particular, items measuring features of patient control and choice regarding genomic data were strongly endorsed by respondents. Majority wanted to specify upfront how their data could be used, retain the ability to withdraw their sample at a later date, sign a written consent form, and speak to a genetic counselor prior to sequencing. Concerns about privacy and unauthorized access to data were frequently observed. Education level was the sociodemographic variable most often related to attitude statements such that those with higher levels of education generally displayed more critical attitudes. <b><i>Conclusions:</i></b> Attitudes identified here could be used to inform the development of implementation strategies for genomic medicine. Findings suggest health systems must address patient concerns about privacy, consent practices, and the strong desire to control what happens to their genomic data through public outreach and education. Specific oversight procedures and policies that are clearly communicated to the public will be required.

scholarly journals 6 Translating genomics for clinical benefit

2019 ◽  
Vol 95 (1130) ◽  
pp. 686.3-686
Author(s):  
Mark Caulfield
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genomic Medicine ◽  
Health Gain ◽  
Annual Review ◽  
Whole Genome ◽  
Department Of Health ◽  
Data Points ◽  
Genome Analyses ◽  
The Uk

The UK 100,000 Genomes Project has focussed on transforming genomic medicine in the National Health Service using whole genome sequencing in rare disease, cancer and infection. Genomics England partnering with the NHS established 13 Genomic Medicine Centres, the NHS whole genome sequencing centre and the Genomics England Clinical Interpretation Partnership (3337 researchers from 24 countries). We sequenced the 100,000th genome on the 5th December 2019 and completed an initial analysis for participants in July 2019. Alongside these genomes we have assembled a longitudinal life course dataset for research and diagnosis including 2.6 billion clinical data points for the 3000 plus researchers to work on to drive up the value of the genomes for direct healthcare. In parallel we have partnered the NHS to establish one of the world’s most advanced Genomic Medicine Service where we re-evaluated 300,000 genomic tests and upgraded 25% of tests to newer technologies with an annual review. The Department of Health have announced the ambition to undertake 5 million genome analyses over the next 5 years focused on new areas tractable to health gain.

Personalized medicine is more than genomic medicine: confusion over terminology impedes progress towards personalized healthcare

2012 ◽  
Vol 9 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Leigh Ann Simmons ◽  
Michaela Ann Dinan ◽  
Timothy John Robinson ◽  
Ralph Snyderman
Keyword(s):  
Personalized Medicine ◽  
Genomic Medicine ◽  
Personalized Healthcare

scholarly journals Genome sequencing in the clinic: the past, present, and future of genomic medicine

2018 ◽  
Vol 50 (8) ◽  
pp. 563-579 ◽  
Author(s):  
Jeremy W. Prokop ◽  
Thomas May ◽  
Kim Strong ◽  
Stephanie M. Bilinovich ◽  
Caleb Bupp ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Genome Sequencing ◽  
Clinical Setting ◽  
Structural Changes ◽  
New Technologies ◽  
Cancer Genomics ◽  
Genomic Medicine ◽  
Driver Gene ◽  
The Past ◽  
The Future

Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis. The tools of genomics have resolved the etiology of disease for previously undiagnosable conditions, identified cancer driver gene variants, and have impacted the understanding of pathophysiology for many diseases. However, this expansion of use has also highlighted research’s current voids in knowledge. The lack of precise animal models for gene-to-function association, lack of tools for analysis of genomic structural changes, skew in populations used for genetic studies, publication biases, and the “Unknown Proteome” all contribute to voids needing filled for genomics to work in a fast-paced clinical setting. The future will hold the tools to fill in these voids, with new data sets and the continual development of new technologies allowing for expansion of genomic medicine, ushering in the days to come for precision medicine. In this review we highlight these and other points in hopes of advancing and guiding precision medicine into the future for optimal success.

Personalized Medicine: Reality and Reality Checks

2009 ◽  
Vol 43 (5) ◽  
pp. 963-966 ◽  
Author(s):  
J Steven Leeder ◽  
Stephen P Spielberg
Keyword(s):  
Personalized Medicine ◽  
Medical Records ◽  
Genomic Medicine ◽  
Widespread Implementation ◽  
Open Discourse ◽  
Phenotype Data ◽  
Potential Benefits ◽  
Returns On Investment ◽  
And Personalized Medicine ◽  
New Strategies

The evolving era of pharmacogenomics and personalized medicine is greeted with optimism by many, but this sentiment is not universally shared. The existence of diametrically opposed opinions concerning the potential benefits and obstacles facing the widespread implementation of genomic medicine should stimulate discussion and guide the design of studies to establish the value of interventions targeted at the level of individual patients. One of the more controversial aspects of personalized medicine is whether the anticipated benefits will be realized at an acceptable cost. Recently released analyses suggest that the returns on investment depend on the particular scenario and are different for different stakeholders. On the other hand, cost is only one of the challenges regarding implementation of personalized medicine. Among these are the development of universal standards for managing genomic information in electronic medical records, improvement in the collection and interpretation of clinical phenotype data, and new strategies to educate practitioners and patients/consumers. The reality is that personalized medicine is upon us; open discourse and periodic reality checks will be necessary as we confront it.

scholarly journals Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

2021 ◽  
Author(s):  
Lucía Peña Pérez ◽  
Nicolai Frengen ◽  
Julia Hauenstein ◽  
Charlotte Gran ◽  
Charlotte Gustafsson ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Cohort Analysis ◽  
Genomic Medicine ◽  
Molecular Classification ◽  
Regulatory Elements ◽  
Copy Number Variations ◽  
Whole Genome ◽  
Structural Variants

Multiple myeloma (MM) is an incurable and aggressive plasma cell malignancy characterized by a complex karyotype with multiple structural variants (SVs) and copy number variations (CNVs). Linked-read whole-genome sequencing (lrWGS) allows for refined detection and reconstruction of SVs by providing long-range genetic information from standard short-read sequencing. This makes lrWGS an attractive solution for capturing the full genomic complexity of MM. Here we show that high-quality lrWGS data can be generated from low numbers of FACS sorted cells without DNA purification. Using this protocol, we analyzed FACS sorted MM cells from 37 MM patients with lrWGS. We found high concordance between lrWGS and FISH for the detection of recurrent translocations and CNVs. Outside of the regions investigated by FISH, we identified >150 additional SVs and CNVs across the cohort. Analysis of the lrWGS data allowed for resolving the structure of diverse SVs affecting the MYC and t(11;14) loci causing the duplication of genes and gene regulatory elements. In addition, we identified private SVs causing the dysregulation of genes recurrently involved in translocations with the IGH locus and show that these can alter the molecular classification of the MM. Overall, we conclude that lrWGS allows for the detection of aberrations critical for MM prognostics and provides a feasible route for providing comprehensive genetics. Implementing lrWGS could provide more accurate clinical prognostics, facilitate genomic medicine initiatives, and greatly improve the stratification of patients included in clinical trials.

Personalized medicine as a model of care to improve patient outcomes, communication, and reduce cost.

2016 ◽  
Vol 34 (3_suppl) ◽  
pp. e270-e270
Author(s):  
Sherri Z. Millis ◽  
John M Davis ◽  
Stephanie Marie Ratliff ◽  
Melissa Lorraine Ray ◽  
Wendy M Schroeder ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Patient Education ◽  
Personalized Medicine ◽  
Patient Outcomes ◽  
Ethical Issues ◽  
Genomic Medicine ◽  
Initial Assessment ◽  
Hospital System ◽  
Off Label ◽  
Tumor Profiling

e270 Background: Cancer treatment based on an individual’s tumor profiling has been associated with increased time to progression. Despite this, adoption has been impeded by various technical, financial, legislative, and ethical issues. Implementation of a personalized medicine program into a healthcare system with a goal of improving patient outcomes includes clinician and patient education, increased tumor profiling of patients, data sharing/analysis, expanded research, and billing/reimbursement practices. Methods: A personalized medicine program was implemented at a hospital system. Measures of physician practice included attendance at genomic medicine education sessions, utilization of genetic/genomic tests, enrollment of patients into clinical trials, modifications in billing practices, and submission of data for analysis. Reimbursement of off-label pharmaceutical agents as well as use of aggregate data to inform treatment and enrollment in biomarker-based clinical trials was recorded. Frequency of genetic and/or genomic tests relative to physician and patient education and access to research opportunities was also assessed. Early patient outcomes, overall costs of care, access to clinical trials, and changes in knowledge and communication are also being monitored. Results: Although analysis is ongoing, the initial assessment indicates an increased utilization of genetic and genomic tests, clarity in billing practices, improved reimbursement for off label therapies, and consumption of educational opportunities from clinicians to patients/caregivers. Analysis of the first year implementation will be reported, including evaluation of preliminary results relative to quality of life and survivorship. Conclusions: Preliminary analysis of data from implementation of a personalized medicine program indicates that utilizing relevant education, research, aggressive billing and reimbursement processes, and IT infrastructure, can provide patients with the individual therapies which reduce cost and improve survivorship.

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