Thursday, March 1, 2012
QD: News Every Day--New resource wrangles info on 2,500 available genetic tests
The federal government launched its Genetic Testing Registry (GTR) to help physicians navigate the burgeoning number of genetic tests. 
The free resource, developed by the National Institutes of Health, (NIH) is aimed to help physicians looking for answers to their patients' diseases, as well as researchers seeking to identify gaps in scientific knowledge.
"Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories," said Wendy Rubinstein, MD, PhD, FACP, director of GTR, said in a press release. "What's more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH."
Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate, according to the NIH. 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.
Genetic tests that the Food and Drug Administration has cleared or approved as safe and effective will be identified in the GTR. However, most laboratory developed tests currently do not require FDA premarket review, the NIH release notes, so genetic test providers will be solely responsible for the content and quality of the data they submit to GTR.
NIH will not verify the content, but will require submitters to agree to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis. If submitters do not adhere to this code, NIH can take action, including requiring submitters to correct any inaccuracies or to remove such information from GTR.
In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test's clinical utility, or how likely the test is to improve patient outcomes. Video tutorials on how to use GTR are online.
ACP Internist publishes "Practical Genomics," an update on genetic tests and related subjects, and how genomic topics intersect with everyday aspects of internal medicine. Columns by W. Gregory Feero, MD, PhD, are collected here. Dr. Feero, a family physician with a doctorate in human genetics, is Special Advisor to the Director of the National Human Genome Research Institute (NHGRI) and faculty at the Maine-Dartmouth Family Medicine Residency Program (MDFPR).
Labels: genetics, genomics, Practical Genomics, QD, tools
posted by Ryan DuBosar at
7:00 AM
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Blog log
Members of the American College of Physicians contribute posts from their own sites to ACP Internistand ACP Hospitalist. Contributors include:
Albert Fuchs,
MD
Albert Fuchs, MD, FACP, graduated from the
University of California, Los Angeles School of Medicine, where he
also did his internal medicine training. Certified by the American
Board of Internal Medicine, Dr. Fuchs spent three years as a
full-time faculty member at UCLA School of Medicine before opening
his private practice in Beverly Hills in 2000.
And Thus, It Begins
Amanda Xi, ACP Medical
Student Member, is a first-year medical student at the OUWB School
of Medicine, charter class of 2015, in Rochester, Mich., from which
she which chronicles her journey through medical training from day
1 of medical school.
Zackary Berger
Zackary Berger, MD, ACP Member, is a primary care doctor and
general internist in the Division of General Internal Medicine at
Johns Hopkins. His research interests include doctor-patient
communication, bioethics, and systematic reviews.
Controversies in Hospital
Infection Prevention
Run by three ACP
Fellows, this blog ponders vexing issues in infection prevention
and control, inside and outside the hospital. Daniel J Diekema, MD,
FACP, practices infectious diseases, clinical microbiology, and
hospital epidemiology in Iowa City, Iowa, splitting time between
seeing patients with infectious diseases, diagnosing infections in
the microbiology laboratory, and trying to prevent infections in
the hospital. Michael B. Edmond, MD, FACP, is a hospital
epidemiologist in Richmond, Va., with a focus on understanding why
infections occur in the hospital and ways to prevent these
infections, and sees patients in the inpatient and outpatient
settings. Eli N. Perencevich, MD, ACP Member, is an infectious
disease physician and epidemiologist in Iowa City, Iowa, who
studies methods to halt the spread of resistant bacteria in our
hospitals (including novel ways to get everyone to wash their
hands).
db's Medical Rants
Robert M. Centor, MD, FACP, contributes short essays contemplating
medicine and the health care system.
DrDialogue
Juliet K. Mavromatis, MD, FACP, provides a conversation about
health topics for patients and health professionals.
Dr. Mintz' Blog
Matthew Mintz, MD, FACP, has practiced internal medicine for more
than a decade and is an Associate Professor of Medicine at an
academic medical center on the East Coast. His time is split
between teaching medical students and residents, and caring for
patients.
Everything
Health
Toni Brayer, MD, FACP, blogs about the rapid changes in science,
medicine, health and healing in the 21st century.
FutureDocs
Vineet Arora, MD, FACP, is Associate Program Director for the
Internal Medicine Residency and Assistant Dean of Scholarship &
Discovery at the Pritzker School of Medicine for the University of
Chicago. Her education and research focus is on resident duty
hours, patient handoffs, medical professionalism, and quality of
hospital care. She is also an academic hospitalist.
Glass Hospital
John H. Schumann, MD, FACP, provides transparency on the workings
of medical practice and the complexities of hospital care,
illuminates the emotional and cognitive aspects of caregiving and
decision-making from the perspective of an active primary care
physician, and offers behind-the-scenes portraits of hospital
sanctums and the people who inhabit them.
Gut Check
Ryan Madanick, MD, ACP Member, is a gastroenterologist at the
University of North Carolina School of Medicine, and the Program
Director for the GI & Hepatology Fellowship Program. He
specializes in diseases of the esophagus, with a strong interest in
the diagnosis and treatment of patients who have
difficult-to-manage esophageal problems such as refractory GERD,
heartburn, and chest pain.
I'm dok
Mike Aref, MD, PhD, FACP, is an academic hospitalist with an
interest in basic and clinical science and education, with
interests in noninvasive monitoring and diagnostic testing using
novel bedside imaging modalities, diagnostic reasoning, medical
informatics, new medical education modalities, pre-code/code
management, palliative care, patient-physician communication,
quality improvement, and quantitative biomedical imaging.
Informatics
Professor
William Hersh, MD, FACP, Professor and Chair, Department of Medical
Informatics & Clinical Epidemiology, Oregon Health &
Science University, posts his thoughts on various topics related to
biomedical and health informatics.
David Katz, MD
David L. Katz, MD, MPH, FACP, is an internationally renowned
authority on nutrition, weight management, and the prevention of
chronic disease, and an internationally recognized leader in
integrative medicine and patient-centered care.
Just Oncology
Richard Just, MD, ACP Member, has 36 years in clinical practice of
hematology and medical oncology. His blog is a joint publication
with Gregg Masters, MPH.
KevinMD
Kevin Pho, MD, ACP Member, offers one of the Web's definitive sites
for influential health commentary.
MD
Whistleblower
Michael Kirsch, MD, FACP, addresses the joys and challenges of
medical practice, including controversies in the doctor-patient
relationship, medical ethics and measuring medical quality. When
he's not writing, he's performing colonoscopies.
Medical Lessons
Elaine Schattner, MD, FACP, shares her ideas on education, ethics
in medicine, health care news and culture. Her views on medicine
are informed by her past experiences in caring for patients, as a
researcher in cancer immunology, and as a patient who's had breast
cancer.
Mired in MedEd
Alexander M.
Djuricich, MD, FACP, is the Associate Dean for Continuing Medical
Education (CME), and a Program Director in Medicine-Pediatrics at
the Indiana University School of Medicine in Indianapolis, where he
blogs about medical education.
More Musings
Rob Lamberts, MD, ACP Member, a med-peds and general practice
internist, returns with "volume 2" of his personal musings about
medicine, life, armadillos and Sasquatch at More Musings (of a
Distractible Kind).
Prescriptions
David M. Sack, MD, FACP, practices general gastroenterology at a
small community hospital in Connecticut. His blog is a series of
musings on medicine, medical care, the health care system and
medical ethics, in no particular order.
Reflections of a Grady
Doctor
Kimberly Manning, MD, FACP, reflects on the personal side of being
a doctor in a community hospital in Atlanta.
The Blog of Paul Sufka
Paul Sufka,
MD, ACP Member, is a board certified rheumatologist in St. Paul,
Minn. He was a chief resident in internal medicine with the
University of Minnesota and then completed his fellowship training
in rheumatology in June 2011 at the University of Minnesota
Department of Rheumatology. His interests include the use of
technology in medicine.
Technology in (Medical)
Education
Neil Mehta, MBBS, MS, FACP, is interested in use of technology in
education, social media and networking, practice management and
evidence-based medicine tools, personal information and knowledge
management.
Peter A. Lipson,
MD
Peter A. Lipson, MD, ACP Member, is a practicing internist and
teaching physician in Southeast Michigan. The blog, which has been
around in various forms since 2007, offers musings on the
intersection of science, medicine, and culture.
Why is American Health Care So Expensive?
Janice
Boughton, MD, FACP, practiced internal medicine for 20 years before
adopting a career in hospital and primary care medicine as a locum
tenens physician. She lives in Idaho when not traveling.
World's Best Site
Daniel Ginsberg, MD,
FACP, is an internal medicine physician who has avidly applied
computers to medicine since 1986, when he first wrote medically
oriented computer programs. He is in practice in Tacoma,
Washington.
Other blogs of note:
American Journal of
Medicine
Also known as the Green Journal, the American Journal of Medicine
publishes original clinical articles of interest to physicians in
internal medicine and its subspecialities, both in academia and
community-based practice.
Clinical
Correlations
A collaborative medical blog started by Neil Shapiro, MD, ACP
Member, associate program director at New York University Medical
Center's internal medicine residency program. Faculty, residents
and students contribute case studies, mystery quizzes, news,
commentary and more.
Interact MD
Michael Benjamin, MD, ACP member, doesn't accept industry money so
he can create an independent, clinician-reviewed space on the
Internet for physicians to report and comment on the medical news
of the day.
PLoS Blog
The Public Library of Science's open access materials include a
blog.
White Coat
Rants
One of the most popular anonymous blogs written by an emergency
room physician.
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