Genomics

Assessing Genomic Sequencing Information for Health Care Decision Making – Institute of Medicine – 2014

Posted on July 24, 2014. Filed under: Genomics | Tags: , |

Assessing Genomic Sequencing Information for Health Care Decision Making – Institute of Medicine – 2014

Institute of Medicine. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press, 2014.

“Description

Rapid advances in technology have lowered the cost of sequencing an individual’s genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover “secondary,” or “incidental,” findings – genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information.

To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.”

 

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NIH adds substantial set of genetic, health information to online database – 26 February 2014

Posted on March 5, 2014. Filed under: Genomics |

NIH adds substantial set of genetic, health information to online database – 26 February 2014

“Researchers will now have access to genetic data linked to medical information on a diverse group of more than 78,000 people, enabling investigations into many diseases and conditions. The data, from one of the nation’s largest and most diverse genomics projects — Genetic Epidemiology Research on Aging (GERA) — have just been made available to qualified researchers through the database of Genotypes and Phenotypes (dbGaP), an online genetics database of the National Institutes of Health.”

… continues on the site

Resource for Genetic Epidemiology Research on Adult Health and Aging (GERA)

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Introducing the New Human Genome Assembly: GRCh38 – NCBI – 24 December 2013

Posted on December 30, 2013. Filed under: Genomics |

Introducing the New Human Genome Assembly: GRCh38 – NCBI – 24 December 2013

“This month marks a major event in the realm of human genome research: the release of a new assembly of the genome, GRCh38. It has been over four years since the last major release (GRCh37 in March 2009), and we are going to explore several aspects of this new assembly in a series of blog posts over the coming weeks. In this initial post, we will give an overview of the data flow so that you will understand how NCBI received the data, where the data are at NCBI and what genome annotations you can expect from NCBI in the near future.”

… continues

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Regenerative medicine Report – House of Lords Science and Technology Committee – 1 July 2013

Posted on July 23, 2013. Filed under: Genomics, Medicine, Research | Tags: |

Regenerative medicine Report – House of Lords Science and Technology Committee – 1 July 2013

London : The Stationery Office Limited

Extract from the summary

“Regenerative medicine involves replacing or regenerating cells, tissues or organs in the human body, in order to restore or establish normal function. It includes cell therapy, gene therapy, tissue engineering and other methods, and it has enormous potential to treat and cure diseases. It could also improve the quality of peoples’ lives and generate significant economic benefits for the UK.

In this inquiry we have sought to identify what the UK is doing well in regenerative medicine and any barriers to its future development. We make recommendations to the Government that, if acted upon, would facilitate the translation of scientific knowledge into clinical practice and encourage its commercial exploitation.”

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Preparing for Precision Medicine – World Economic Forum – 15 November 2012

Posted on November 27, 2012. Filed under: Genomics, Medicine | Tags: , |

Preparing for Precision Medicine – World Economic Forum – 15 November 2012

“Personalized medicine is the combination of established clinical parameters with emerging molecular information to generate preventative, diagnostic and therapeutic solutions that are tailored to each patient’s needs. Personalized approaches facilitate more precise healthcare deliver and have the potential to improve outcomes while reducing waste of resources and delivering significant other benefits. Assuring a smooth transition will depend on establishing frameworks for regulating, compiling and interpreting the influx of information that can keep pace with rapid scientific developments.”

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Evaluating the Potential Socio-Economic Impact of Personalized Medicine – Research Report for Genome Quebec prepared by CIRANO – May 2012

Posted on June 19, 2012. Filed under: Genomics | Tags: |

Evaluating the Potential Socio-Economic Impact of Personalized Medicine – Research Report for Genome Quebec prepared by CIRANO – May 2012

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Computing cluster speeds targeted treatments for childhood cancer – Healthcare IT News – 18 May 2012

Posted on May 21, 2012. Filed under: Child Health / Paediatrics, Genomics, Oncology |

Computing cluster speeds targeted treatments for childhood cancer – Healthcare IT News – 18 May 2012

Mike Miliard, Managing Editor

“AUSTIN – Cloud-based research technology launched by Dell last year for the Translational Genomics Research Institute (TGen) is gearing up for what’s billed as the world’s first precision medicine clinical trial for pediatric cancer.

James Coffin, vice president and general manager, Dell Healthcare and Life Sciences, says the eight-teraflop supercomputer, billed as the “kids cloud,” will drastically reduce the time required to identify personalized treatments for children participating in the trial program – kids who have no time to spare. In turn, that acceleration can help open the trials up to participation from more children.

The Human Genome Project “took $3 billion and 10 years” to sequence the first genome, he points out. “A year ago, it took about nine months and cost about $400,000 or $500,000 to do a full genome.”

And recently, says Coffin, “we just ran a test for a full genome for a patient, and got all the the results and made a clinical decision for the patient to the tumor board in less than five days.”

Dell has “done a lot of work to retune the codes and make them run really fast on this platform,” he says. “Just three months ago, the analysis of 25 million bases – there’s usually about 500 or 600 million bases you have to do to kind of do this whole genome sequence – and 25 million bases took about 48 hours.”

Now, that time is down to six hours.”

… continues on the site

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Evolution of Translational Omics: Lessons Learned and the Path Forward – Institute of Medicine – 23 March 2012

Posted on March 26, 2012. Filed under: Genomics, Health Technology Assessment, Pathology | Tags: , , |

Evolution of Translational Omics: Lessons Learned and the Path Forward – Institute of Medicine – 23 March 2012

full text

“Technologies that are collectively called omics have made it feasible to measure an enormous number of molecules within a tissue or cell; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Patients look to the scientific community to develop innovative omics-based tests to more reliably detect disease and to predict their likelihood of responding to specific drugs. However, the translation of these new technologies into clinical laboratory tests that can help patients directly has happened more slowly than anticipated.

Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the National Cancer Institute requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. The IOM’s recommendations speak to the many parties responsible for discovery and development of omics-based tests, including investigators, their institutions, sponsors of research, the FDA, and journals. The report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials. The IOM’s recommendations aim to ensure that progress in omics test development is grounded in sound scientific practice and is reproducible, resulting not only in improved health care but also in continued public trust.”

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Confused by genetic tests? NIH’s new online tool may help – 29 February 2012

Posted on March 6, 2012. Filed under: Genomics, Pathology |

Confused by genetic tests? NIH’s new online tool may help – 29 February 2012

“An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.

“I’m delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing,” said NIH Director Francis S. Collins, M.D., Ph.D., who unveiled GTR at NIH’s observance of international Rare Disease Day. “This registry will help a lot of people — from health care professionals looking for answers to their patients’ diseases to researchers seeking to identify gaps in scientific knowledge.”

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential information about people who receive genetic tests or individual test results.”

… continues on the site

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Genetics/Genomics in Nursing and Midwifery – Department of Health [UK] – 22 December 2011

Posted on January 4, 2012. Filed under: Genomics, Nursing |

Genetics/Genomics in Nursing and Midwifery – Department of Health [UK] – 22 December 2011

“The atttached report has been produced to assist the Nursing & Midwifery Professional Advisory Board in identifying issues and potential solutions concerning the future of genetics/genomics for the nursing and midwifery professional workforce.”

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Stratified Medicine Programme – Cancer Research UK – 21 November 2011

Posted on November 28, 2011. Filed under: Genomics, Oncology |

Stratified Medicine Programme – Cancer Research UK – 21 November 2011

“A new initiative to develop ‘personalised cancer treatment’ has today been launched. The experimental project has been designed to develop a screening program to test tumours for key genetic changes. It is hoped that in the future the results of such tests would influence treatment programmes, helping doctors choose the best drug for each person.

The new initiative, called the Stratified Medicine Programme, is being led by Cancer Research UK, the UK Technology Strategy Board and the pharmaceutical companies AstraZeneca and Pfizer. It is hoped that the work will lay the foundations for genetic testing of both patients and tumours to become standard practice, allowing the use of specialised drugs that target specific genes and mutations that can cause or influence the development of cancer.

In addition to laying the foundations for a genetic testing service, the information collected during the programme may be useful for research into new treatments; for example, by identifying new targets and by seeing how genetics affect people’s responses to various cancer drugs. Although people taking part in the early stages of this programme are unlikely to directly benefit, it is hoped that in the long-term, patients will be provided with individually tailored treatments that ultimately prove more effective.

What is the project looking at?”

… continues on the site

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Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary – Institute of Medicine – 2011

Posted on November 15, 2011. Filed under: Genomics | Tags: |

Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary – Institute of Medicine – 2011

ISBN-10: 0-309-22034-3     ISBN-13: 978-0-309-22034-7

“The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia.

With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice.

Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.”

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Genetics/Genomics in Nursing and Midwifery – Genetics in Nursing & Midwifery Task and Finish Group – 2011

Posted on October 26, 2011. Filed under: Educ for Hlth Professions, Genomics, Nursing |

Genetics/Genomics in Nursing and Midwifery – Genetics in Nursing & Midwifery Task and Finish Group – 2011

“Summary
A task and finish group comprising ten senior nurses and midwives with interest and/or expertise in genetics/genomics was set up to consider the future of genetics/genomics in relation to nursing and midwifery. The purpose of the task and finish group was to identify key issues and potential solutions concerning the future of genetics/genomics in relation to nursing and midwifery and to provide a report to the Nursing and Midwifery Professional Advisory Board to consider and use to inform its responses and future actions.”

NHS National Genetics Education and Development Centre

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Next steps in the sequence: the implications of whole genome sequencing for health in the UK – PHG Foundation – 25 October 2011

Posted on October 26, 2011. Filed under: Genomics |

Next steps in the sequence: the implications of whole genome sequencing for health in the UK – PHG Foundation – 25 October 2011

“The PHG Foundation’s latest report sets out a strategy for the UK National Health Services to make the most of new and emerging opportunities for better care thanks to whole genome sequencing (WGS) technologies.
 
Next steps in the sequence: the implications of whole genome sequencing for health in the UK is the first comprehensive overview of the impending medical impact of human genome sequencing. It reviews the relevant technologies, identifies the areas of medicine where genomics is having the most immediate impact – notably in diagnosis and management of inherited forms of disease and cancer  – outlines the barriers to prompt and effective implementation within the NHS and makes recommendations for action to tackle these issues.
 
Key strategic challenges identified include the need for new biomedical informatics expertise, clinical databases and improved understanding of genomic data interpretation within the NHS.”  … continues on the site

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Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information – Royal College of Physicians – 5 September 2011

Posted on September 9, 2011. Filed under: Genomics |

Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information – Royal College of Physicians – 5 September 2011

Extract from the press release:

“As genetic technologies advance both in terms of speed and reducing costs, more and more clinical applications are seen in the NHS. This brings many benefits for diagnoses, risk prediction and clinical management, but there are accompanying ethical and legal issues of managing information that is relevant to both the individual and their family.

A new report from the Royal College of Physicians (RCP), Royal College of Pathologists and British Society for Human Genetics explores these issues and sets out clear guidelines for healthcare professionals.

The report guides healthcare professionals through the complex mix of legislation that applies to the use of genetic data and samples. Included in the guidance are worked examples, based on real cases illustrating how complex situations can be dealt with in practice. A key focus of the report is to illustrate how the family can be important in what otherwise might seem to be individual decisions.

Key recommendations from Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information include:”

… continues

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Genetic Research in Aboriginal and Torres Strait Islander Communities: Beginning the Conversation – August 2011

Posted on August 22, 2011. Filed under: Aboriginal TI Health, Genomics, Research | Tags: |

Genetic Research in Aboriginal and Torres Strait Islander Communities: Beginning the Conversation – August 2011

by Emma Kowal, Lobna Rouhani, & Ian Anderson

“This discussion paper is the outcome of the first ever national discussion of the conduct of genetic research in Indigenous communities in Australia convened by the Lowitja Institute in 2010. It reviews the ethical issues relevant to genetic research in an Australian Indigenous context; existing guidelines for genetic research in indigenous communities internationally; and literature on genetic literacy in Indigenous contexts. Finally, the discussion paper presents a summary of the productive and challenging conversations at the roundtable.”

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Generating Evidence for Genomic Diagnostic Test Development – IoM Workshop Summary – 6 May 2011

Posted on May 9, 2011. Filed under: Diagnostics, Genomics | Tags: |

Generating Evidence for Genomic Diagnostic Test Development – IoM Workshop Summary – 6 May 2011

Full text online

“Ten years after the sequencing of the human genome, scientists have developed genetic tests that can predict a person’s response to certain drugs, estimate the risk of developing Alzheimer’s disease, and make other predictions based on known links between genes and diseases. However, most clinical practitioners do not use these tests regularly, and genetic testing has yet to become part of routine medical care. One barrier is the lack of evidence for their effectiveness—there is little to show that using these tests improves patients’ health.

The IOM’s Roundtable on Translating Genomic-Based Research for Health held a workshop on November 17, 2010, to explore barriers and solutions to generating evidence for genetic tests. Participants discussed stakeholder views on the use of evidence in decision-making processes such as clearance, reimbursement, clinical practice adoption, and patient utility; innovative methods to generate high-quality evidence more efficiently; and potential ways to overcome current limitations in generating evidence of clinical utility. This document summarizes the workshop.”

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Vanderbilt Launches Cancer Decision Support Tool – 17 March 2011

Posted on March 21, 2011. Filed under: Genomics, Oncology |

Vanderbilt Launches Cancer Decision Support Tool

My Cancer Genome Web site will collect information about genetic mutations that impact different cancers and link to targeted research on treatment options.
By Nicole Lewis InformationWeek
March 17, 2011 02:09 PM

“Vanderbilt-Ingram Cancer Center (VICC) has launched the nation’s first personalized cancer decision-support Web site that will collect and distribute information about the expanding list of genetic mutations that impact different cancers, as well as provide links to research documents on various treatment options based on specific mutations.

The online tool, My Cancer Genome, is linked to Vanderbilt University Medical Center’s StarPanel electronic medical record (EMR) database, giving physicians the ability to cross-reference patients’ medical histories, lab results, medications, and other medical information with online data that tracks the latest developments in personalized cancer medicine and clinical research.”

…continues on the InformationWeek site

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The Value of Genetic and Genomic Technologies – Institute of Medicine – 23 August 2010

Posted on August 24, 2010. Filed under: Genomics | Tags: , |

The Value of Genetic and Genomic Technologies – Institute of Medicine – 23 August 2010

Type: Workshop Summary – online version

“Each and every human being shares the same genes—and yet, slight alterations in those genes can contribute to great differences among us, ranging from eye color variance and baldness to increasing the risk of developing breast cancer and diabetes. Knowing one’s genetic disposition to a variety of diseases, including common chronic diseases, can benefit both the individual and society at large. In fact, genetic testing in the laboratory is relatively common today; it can help physicians diagnose genetic disorders even before symptoms appear, confirm a disease after symptoms develop, screen for markers of increased risk of disease, or determine whether someone is a carrier for a recessive disease. The knowledge that can be gained from genetic testing or profiling allows for care that is personalized to an individual, ranging from medication that is tailored to a person’s unique genetic makeup, to the ability to identify an individual’s risk of developing certain diseases over a lifetime. Still, the question remains: how should any or all of these advances be used in the health care setting?

The IOM’s Roundtable on Translating Genomic-Based Research for Health held a workshop on March 22, 2010, to bring together diverse perspectives on the value of genetic testing, and to discuss its use in clinical practice. Three case examples were used to facilitate discussion: correlation between Lynch Syndrome and colon cancer; pharmacogenomic testing for warfarin dosing; and genomic profiling. This document summarizes the workshop.”

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New training and education programme introduced for the scientific workforce in genetics – UK – 30 July 2009

Posted on July 31, 2009. Filed under: Clinical Education, Educ for Hlth Professions, Genomics, Workforce |

New training and education programme introduced for the scientific workforce in genetics
30 July 2009 11:03
UK Department of Health   (National)

“A new education programme has been developed to provide enhanced training in genetic technologies and clinical applications for healthcare scientists working in laboratory genetics, Health Minister Ann Keen announced today.

This pilot is part of the UK Modernising Scientific Careers (MSC) programme which is transforming education, training and career pathways for the healthcare science workforce.

The pilot funded by the Department of Health is investing over £4.5 million to address the training needs of the healthcare science workforce in genetics.

The new pilot will:

* Respond to future workforce needs, which has increased significantly in the last ten years as scientific discoveries have created new opportunities to diagnose and predict disease;
* Inform the roll out of the MSC programme for other healthcare science training programmes which will begin in 2010 with full implementation in 2012;
* Establish a national School of Genetics in the West Midlands; and
* Modernise the genetics curricula to respond to breakthrough scientific advances and their applications for patients and the public.”

…continues on the website

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Genomic Medicine Inquiry – UK – report published 7 July 2009

Posted on July 8, 2009. Filed under: Genomics | Tags: , |

Genomic medicine inquiry House of Lords, Science and Technology Committee 2nd Report of Session 2008–09   Published by the Authority of the House of Lords,   London : The Stationery Office Limited   HL Paper 107–I    127 p.

The House of Lords Select Committee on Science and Technology launched an inquiry into genomic medicine on 28 February 2008, which was conducted by Sub-Committee II. The inquiry will provide an assessment of genome technologies and their actual and potential impact on clinical practice in the post-genome era.

The Committee’s report on Genomic Medicine was on published on Tuesday 7 July 2009.

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Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism. Evidence Report/Technology Assessment – AHRQ – June 2009

Posted on June 25, 2009. Filed under: Cardiol / Cardiothor Surg, Genomics | Tags: , |

AHRQ = US Agency for Healthcare Research & Quality

Segal JB, Brotman DJ, Emadi A, Necochea AJ, Samal L, Wilson LM, Crim MT, Bass EB.
Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism. Evidence Report/Technology Assessment No. 180. (Prepared by Johns Hopkins University Evidence-based Practice Center under contract no. HHSA 290-2007-10061-I). AHRQ Publication No. 09-E011. Rockville, MD. Agency for Healthcare Research and Quality.Value of Genetic Testing for Preventing Blood Clots Unproven

AHRQ released a new evidence report that found insufficient evidence to conclude that genetic testing for two gene mutations in adults with a history of blood clots helps to prevent a condition known as deep-vein thrombosis or to improve other clinical outcomes.  The report, a summary of which will be published in the June 17 issue of JAMA, also failed to find any benefit from genetic testing of family members of patients who have at least one of the two mutations — known as Factor V Leiden (FVL) and prothrombin G20210A — as well as a history of deep-vein thrombosis.   The evidence report was requested and supported by CDC’s Office of Public Health Genomics (OPHG).  The Evaluation of Geno mic Applications in Practice and Prevention Working Group, established by OPHG in 2005, will use this evidence report and other evidence to make recommendations on the validity and utility of genetic tests for FVL and prothrombin G20210A. This report, titled Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism, was conducted by AHRQ’s Johns Hopkins Evidence-based Practice Center in Baltimore.

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Innovations in Service Delivery in the Age of Genomics. Workshop Summary from the Institute of Medicine (US) published 14 May 2009

Posted on May 18, 2009. Filed under: Genomics | Tags: , |

Innovations in Service Delivery in the Age of Genomics. Workshop Summary from the Institute of Medicine (US)

Released On:       May 14, 2009

“New discoveries in genomics—that is, the study of the entire human genome—are changing how we diagnose and treat diseases. Whereas previously, genetic testing could only screen for rare genetic disorders, increasingly, patients and their physicians are able to use genetic information to predict the risk of common diseases such as diabetes and breast cancer and to help determine prevention and treatment options. Genetic specialists have long been the main providers of genetic services, offering intensive counseling for rare genetic disorders. However, as the trend shifts from genetic testing largely being undertaken for rare genetic disorders to, increasingly, individuals being screened for common diseases, general practitioners, pediatricians, obstetricians/gynecologists, and other providers need to be knowledgeable about and comfortable using genetic information to improve their patients’ health.

The Roundtable on Translating Genomic-Based Research for Health held the public workshop “Innovations in Service Delivery in the Age of Genomics” on July 27, 2008. The workshop set out to examine the current system of genetic service delivery, learn about some pioneering current practice models, and propose new models for integrating genetic and genomic innovations into education, training, and clinical practice. Participants discussed the strengths and challenges of the current system and considered a vision for the future of genetic and genomic services, which may not be so distant after all.”

Full text online

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