Aug 15, 2018 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Using precision genomics, Mayo researchers hope to develop improved medical laboratory tools for screening, diagnosing, and treating patients with inherited genetic disorders such as accelerated aging
Telomeres increasingly are on the radars of physicians and healthcare consumers alike, as researchers gain more knowledge about these critical nucleotides, and doctors continue to indicate their belief that telomeres could make useful diagnostic tools. If so, that would open up a new channel of precision medicine testing for clinical laboratories and anatomic pathology groups.
Telomeres are DNA strands that protect chromosome end points from degrading as people age. Their job is similar to the way plastic tips keep shoelaces from fraying, researchers at the Mayo Clinic explained in a news release. They have been using precision genomics in their assessment of 17 patients with short telomere syndrome (STS) to uncover the genetic causes of the condition.
They published their findings in the July issue of Mayo Clinic Proceedings.
Using Genetic Sequencing to Find Causes of Short Telomeres
People with STS could develop conditions including bone marrow failure, liver disease, and lung disease earlier in life than others, the news release pointed out.
However, according to the researchers’ paper, “Management of STSs is fraught with significant challenges such as delayed diagnoses, lack of routinely available diagnostics modalities, and standardized treatment guidelines.”
Nevertheless, some physicians are already leveraging information about telomeres in patient treatment. And many consumers have been turning to telomere diagnostic testing companies to learn the lengths of their own telomeres. They’ve learned that the longer the telomeres the better, as shorter telomeres are associated with accelerated aging.
“The length of certain telomeres gives a history of all the assaults a person has been subject to over the course of her lifetime,” a Wired article noted, quoting Joseph Raffaele, MD, co-founder of PhysioAge Medical Group, a clinical practice in New York City that specializes in “proactive” medicines. He goes on to call telomeres “the new cholesterol.” (Photo copyright: drraffaele.com.)
More Study into STS is Needed
GenomeWeb summarized the Mayo study’s methodology as follows:
Researchers reported these findings in Mayo Clinic Proceedings:
Study authors concluded that while some genetic mutations are common to short telomeres, they were found in only about 40% of the people in their study. So, more research is needed to discover other causes of short telomeres.
Telomeres and Lung Disease
Other research into telomeres was conducted by St. Paul’s Hospital and the University of British Columbia Department of Medicine, which focused on telomeres and lung disease.
In this study, researchers used polymerase chain reaction (PCR) to measure absolute telomere length from blood samples provided by 576 people with chronic obstructive pulmonary disease (COPD), according to a paper in the journal CHEST, published by the American College of Chest Physicians.
The study found that when compared to people with normal blood telomeres, people with shorter telomere lengths and more rapidly aging blood cells:
- Were 50% more likely to develop new or increasing respiratory symptoms;
- Were nine times more likely to die; and,
- Had worse health status and quality of life.
“It is known that short telomeres are associated with common morbidities of COPD, but it was not known if there is a relationship between blood telomeres and patient-related outcomes in COPD,” Don Sin, MD, a chest physician who led the research at the Centre for Heart Lung Innovation at St. Paul’s Hospital, stated in a news release.
Other Takes on Telomeres
A Harvard Medical blog noted, however, that short telomeres do not necessarily mean disease is imminent, nor that long ones guarantee optimal health.
“There is mounting evidence that a healthy lifestyle buffers your telomeres,” stated Immaculata De Vivo, PhD, a Harvard Medical School Professor and Genetics Researcher at the Dana-Farber/Harvard Cancer Center, in the blog post.
However, another expert questions the value of measuring telomeres for disease risk.
“In short, telomere lengths are too variable within a population, too variable within an individual, and too sensitive to environmental factors to offer any reliable information for common disease risk,” wrote Ricki Lewis, PhD, in PLOS.
Although there are many pitfalls to overcome, some doctors are pushing to use telomere information in patient treatment, and these studies from the Mayo Clinic and other researchers have contributed important data for diagnostic test developers.
In the end, vast and varied content about telomeres exists and clinical laboratory professionals may be called on to help clarify and assess the information. And that’s the long and the short of it.
—Donna Marie Pocius
Related Information:
Precision Genomics Point the Way to Mutations Associated with Accelerated Aging
Telomeres Are the New Cholesterol. Now What?
Clinical Correlates and Treatment Outcomes for Patients with Short Telomeres Syndrome
Mayo Clinic Researchers Use Targeted Sequencing to Diagnose Short Telomere Syndrome
Relationship of Absolute Telomere Length with Quality of Life, Exacerbations, and Mortality in COPD
Blood Telomeres Can Help Predict Risk of Disease Worsening or Death in COPD Patients
Can DNA Markers Called Telomeres Predict Aging?
Telomere Testing: Science or Snake Oil?
White Paper Download | How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians
Summit: Breakthroughs with Genetic and Precision Medicine: What All Health Network CEOs Need to Know
May 31, 2018 | Compliance, Legal, and Malpractice, Laboratory Pathology, White Papers
Medicine is rapidly shifting from a traditional one-size-fits-all approach to diagnosis and treatment, to an individualized predictive and personalized medicine model with care customized for each patient. Uniquely positioned within this shifting healthcare paradigm are molecular and clinical laboratories that can provide healthcare teams with access to a rich repository of actionable genetic data.
Pathologists are becoming the point persons as personalized medicine becomes the norm, and as the understanding of the relationship between genetic variants and disease continues to grow. With next generation sequencing (NGS) accelerating the pace of discoveries, prevention and treatment will no longer be centered around “standards of care” that often result in a predetermined sequence of therapies. Instead, a patient’s genome, lifestyle, and environment will combine to pinpoint an effective and individualized treatment plan.
Because NGS is the engine powering much of this new genetic information and igniting the potential of personalized medicine, clinical laboratories have an ideal opportunity to add clinical value and generate a new revenue source by adopting NGS technologies. But—because the NGS modality places significant demands on most current laboratory information systems (LIMS) and leaves them lacking crucial functionality—labs need to have in place a LIMS specifically designed to accommodate personalized medicine’s informatics integration and workflow challenges in order to successfully integrate NGS.
The Dark Report is pleased to offer this FREE White Paper—your guide to understanding the potential that NGS technology holds for your laboratory, as well as how you can realize this potential and convert it into reality by having the right tools in place.
This White Paper provides you with a detailed discussion regarding:
- The growing role of NGS in clinical care
- NGS’ return on investment for clinical and molecular laboratories
- The role of pathologists, as NGS accelerates the transition to predictive and personalized medicine
- The information technology and tools laboratories need to successfully offer NGS-based services
- Benefits of outsourcing annotation and interpretation of gene sequences and test-result reporting
- What clinical and molecular laboratories need to know about marketing NGS services to new and existing clients
Table of Contents
Introduction
Chapter 1: Why Next-Generation Sequencing Has a Growing Role in Clinical Care
Chapter 2: How Clinical and Molecular Laboratories Can Establish NGS Services That Deliver Value to Physicians and Patients
Chapter 3: What Pathologists and PhDs Need to Know about Helping Physicians Understand the Value of NGS in Diagnosing Patients, Selecting Best Therapies, and Monitoring Patient Progress
Chapter 4: What Information Technology and Informatics Capabilities Do Clinical and Molecular Laboratories Need to Succeed with NGS-based Services?
Chapter 5: MIMS’ The Benefits of Outsourcing Annotation and Interpretation of Gene Sequences and Test Results in Support of Patient Care
Chapter 6: What Clinical and Molecular Laboratories Need to Know about Marketing NGS Services and Using NGS to Retain Existing Clients
Conclusion
Medicine is transforming from reactive to proactive, predictive care, with NGS on the verge of being transformative in many ways as it provides a direction destined to accelerate the shift in care models, and ushers in personalized medicine at the genomic level.
This White Paper discusses the growing role of NGS in clinical care and its potential to fuel the transformation to predictive and proactive medicine, as well as pathologists’ contributions to this emerging paradigm and the laboratory information technology and informatics they will need to remain at the forefront of change.
Understanding that NGS services represent a major financial commitment by laboratories, the advantages of using NGS testing as a tool to retain and grow a lab’s customer base is also examined, as is the importance of purchasing a best-of-breed molecular LIS created with big data, genome annotation and interpretation, and informed decision-making in mind.
Pathologists are uniquely qualified to advance the cause of personalized medicine among regulators, insurers, providers, and patients, but can only do so if the best health informatics technology is at their fingertips.
To learn more, download your FREE copy of “How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians.”
Download the White Paper now by completing the form below.
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Oct 17, 2016 | Laboratory Hiring & Human Resources, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Sales and Marketing, Laboratory Testing, Management & Operations
Providing physicians with the clinical context and knowledge for the best use of specialty clinical laboratory tests helps this highly successful lab sales professional establish win-win client relationships
In support of the many local clinical laboratories and hospital lab outreach programs across the United States that continue to regularly add new clients and take market share away from their national lab company competitors, The Dark Report organized the 2016 National Lab Sales Excellence Award.
The award winners were announced at this year’s Executive War College in New Orleans on April 26–27. Reporting on the lab industry’s top sales producers serves two worthy goals. First, it brings recognition to the accomplishments of these lab sales professionals. Second, it helps medical laboratory administrators and pathologists at other labs and hospital outreach programs learn more about what it takes to use lab sales reps to win new clients.
What follows is a profile of the 2nd winner of the 2016 National Lab Sales Excellence Award. Dark Daily will publish profiles for each of the five laboratory sales professionals who were recognized with this unique national sales award. (more…)
Aug 19, 2015 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Testing, Management & Operations
Sequencing this new DNA standard reference material enables medical laboratories to verify if their DNA test results are accurate
To reduce the variability in genetic test results that has been observed across different clinical laboratories and pathology groups, the National Institute for Standards and Technology (NIST) has introduced a new standard DNA reference. This is another step forward to improve transparency in the quality and accuracy of genetic test results produced by medical laboratories in the United States and abroad.
Even as scientists continue to identify genetic mutations that could cause various cancers and other diseases, such as Alzheimer’s and cystic fibrous, studies have demonstrated that DNA test results from the same specimen can vary depending on which medical laboratory performs the whole-genome sequencing analysis. This is partly due to variances in the technology, chemicals and processes used for the testing. Therefore, ensuring consistently reliable test results has been difficult, which could lead to inaccurate or missed diagnoses.
That is why a new standard DNA reference material developed by the National Institute for Standards and Technology has the potential to help DNA sequencing facilities to verify if their DNA test results are accurate. The new reference material, NIST RM 8398, was designed to improve the accuracy of diagnostic laboratories that analyze DNA using “next-generation sequencing” (NGS) technology. (more…)
Feb 11, 2015 | Coding, Billing, and Collections, Compliance, Legal, and Malpractice, Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Pathology
This collaborative effort with microbiology labs will keep microbiologists at the forefront of infectious disease diagnostics
A partnership of San Diego-based genome sequencing company Illumina, and the French multinational, in vitro diagnostics company bioMérieux, plans to launch a next-generation sequencing (NGS) epidemiology service that will allow microbiologists to rapidly identify strains that threaten hospital inpatients and public health, according to a press release distributed by the Illumina-bioMérieux team.
Illumina-bioMérieux Service to Aid Hospital and Public Health Labs
Illumina designated sequencing laboratories with Illumina MiSeq® systems will collaborate with microbiologists working in hospital and public health laboratories to prevent, rapidly track, and contain infectious disease agents in hospitals and communities. (more…)
