Nav: Home

AMP Iissues consensus guideline recommendations for NGS bioinformatics pipelines

November 16, 2017

BETHESDA, Md. -- Nov. 16, 2017 -- The Association for Molecular Pathology (AMP), the premier global, non-profit molecular diagnostics professional society, today published 17 consensus recommendations to help clinical laboratory professionals achieve high-quality sequencing results and deliver better patient care. The report, "Standards and Guidelines for Validating Next Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists," was released online ahead of publication in The Journal of Molecular Diagnostics.

"While the recent widespread adoption of next-generation sequencing (NGS) methodologies have transformed our ability to detect somatic and germline variants, the constant technology evolution and absence of professional guidelines have contributed to variability in clinical laboratory practice," said Somak Roy, MD, Assistant Professor of Pathology at University of Pittsburgh Medical Center, Working Group Chair and AMP Member. "To help solve this unmet need, AMP convened and led a multidisciplinary subject matter expert working group with representation from the College of American Pathologists (CAP), and the American Medical Informatics Association (AMIA) to summarize current knowledge, expose challenges and provide guidance on how to develop, implement and validate high-quality bioinformatics pipelines to ensure better overall patient care."

To achieve optimal NGS test quality, the new bioinformatics report emphasizes the critical role of the properly-trained molecular laboratory professional and recommends practical advice for laboratories regarding bioinformatics pipeline design, development and operation. This latest report completes the series of guidelines designed to improve the entire NGS workflow. It follows the previously published guidelines on interpreting oncology sequence variants and next-generation sequencing-based oncology panel validation. All three reports are based on evidence from a review of published literature, empirical data, current laboratory practice surveys, feedback from multiple public meetings, and expert professional experiences. Since these recommendations represent current best practice in a rapidly developing field, AMP anticipates a need for ongoing updates.

"AMP members are among the early adopters and users of NGS technology in a clinical setting and these best practice consensus standards and guidelines are based on our collective knowledge and expertise," said Alexis B. Carter, MD, Physician Informaticist at Children's Healthcare of Atlanta, Working Group Member, 2017 AMP Informatics Subdivision Chair, and AMP Board Member. "With this series of three guidelines addressing the complete NGS workflow, AMP has now provided the entire cancer genomics community with the appropriate tools and guidance to better incorporate the latest technological innovations in molecular pathology."
-end-
To read the full manuscript, please visit http://jmd.amjpathol.org/article/S1525-1578(17)30373-2/fulltext.

ABOUT AMP

The Association for Molecular Pathology (AMP) was founded in 1995 to provide structure and leadership to the emerging field of molecular diagnostics. AMP's 2,300+ members practice in the various disciplines of molecular diagnostics, including bioinformatics, infectious diseases, inherited conditions and oncology. They include individuals from academic and community medical centers, government, and industry; including pathologist and doctoral scientist laboratory directors; basic and translational scientists; technologists; and trainees. Through the efforts of its Board of Directors, Committees, Working Groups, and members, AMP is the primary resource for expertise, education, and collaboration in one of the fastest growing fields in healthcare. AMP members influence policy and regulation on the national and international levels, ultimately serving to advance innovation in the field and protect patient access to high quality, appropriate testing. For more information, visit http://www.amp.org. Follow AMP on Twitter: @AMPath.

Association for Molecular Pathology

Related Patient Care Articles:

Do ER caregivers' on-the-job emotions affect patient care?
Doctors and nurses in emergency departments at four academic centers and four community hospitals in the Northeast reported a wide range of emotions triggered by patients, hospital resources and societal factors, according to a qualitative study led by a University of Massachusetts Amherst social psychologist.
Hospitality, not medical care, drives patient satisfaction
Patients' ratings of hospitals and willingness to recommend them have almost no correlation to the quality of medical care provided or to patient survival rates, according to new Cornell University research.
Pharmacists provide patient value in team-based care
As part of an innovative model being used at UNT Health Science Center, Dr.
When the cardiology patient ends up in the oncology care ward
If you end up needing to go to the hospital, often times you're hoping to get a bed without having to wait hours, but a new study shows you may want to wait a little longer, so that you are placed in the best ward for your needs.
Could artificial intelligence improve patient care in the NHS?
The adoption of artificial intelligence in the diagnosis and prognosis of disease could help to extend people's lives whilst providing significant savings for the NHS.
Enhanced research reporting method to improve patient care
Patients could benefit from improved care and outcomes thanks to new research guidance developed as part of a University of Stirling-led study.
Mandate patient access to primary care medical records
Canada's provincial governments should mandate patient access to their electronic medical records, argue authors of a commentary in CMAJ (Canadian Medical Association Journal).
Dental checklist of bad practice has patient care at its heart
Dental experts have drawn up a definitive list of never events -- scenarios that patients should never face -- in a bid to ensure excellent patient care worldwide.
Transforming patient health care and well-being through lighting
The world of health care is changing rapidly and there is increased interest in the role that light and lighting can play in improving health outcomes for patients and providing healthy work environments for staff, according to many researchers.
New research on why GPs quit patient care
The research aimed to identify factors influencing GPs' decisions about whether or not to remain in direct patient care, and what might help to retain them in the role.
More Patient Care News and Patient Care Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Listen Again: Meditations on Loneliness
Original broadcast date: April 24, 2020. We're a social species now living in isolation. But loneliness was a problem well before this era of social distancing. This hour, TED speakers explore how we can live and make peace with loneliness. Guests on the show include author and illustrator Jonny Sun, psychologist Susan Pinker, architect Grace Kim, and writer Suleika Jaouad.
Now Playing: Science for the People

#565 The Great Wide Indoors
We're all spending a bit more time indoors this summer than we probably figured. But did you ever stop to think about why the places we live and work as designed the way they are? And how they could be designed better? We're talking with Emily Anthes about her new book "The Great Indoors: The Surprising Science of how Buildings Shape our Behavior, Health and Happiness".
Now Playing: Radiolab

The Third. A TED Talk.
Jad gives a TED talk about his life as a journalist and how Radiolab has evolved over the years. Here's how TED described it:How do you end a story? Host of Radiolab Jad Abumrad tells how his search for an answer led him home to the mountains of Tennessee, where he met an unexpected teacher: Dolly Parton.Jad Nicholas Abumrad is a Lebanese-American radio host, composer and producer. He is the founder of the syndicated public radio program Radiolab, which is broadcast on over 600 radio stations nationwide and is downloaded more than 120 million times a year as a podcast. He also created More Perfect, a podcast that tells the stories behind the Supreme Court's most famous decisions. And most recently, Dolly Parton's America, a nine-episode podcast exploring the life and times of the iconic country music star. Abumrad has received three Peabody Awards and was named a MacArthur Fellow in 2011.