Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Informatics Approach Helps Doctors, Patients Make Sense of Genome Data

Published: Friday, September 21, 2012
Last Updated: Friday, September 21, 2012
Bookmark and Share
Researchers from UNC unveil an analysis framework aimed at helping clinicians spot “medically actionable findings” from genetic tests in an efficient manner.

The cost of sequencing the entire human genome, or exome – the regions of the genome that are translated into proteins that affect cell behavior – has decreased significantly, to the point where the cost of looking at the majority of a patient’s genomic data may be less expensive than undertaking one or two targeted genetic tests.  While efficient, the acquisition of this much genetic data – in some cases as many as 1.5 to 2 million variants – creates other challenges.

In a paper that appears today in the advance online edition of Genetics in Medicine, researchers from the University of North Carolina at Chapel Hill unveil an analysis framework aimed at helping clinicians spot “medically actionable findings” from genetic tests in an efficient manner.

“The challenge for medical geneticists is what do we do with the ‘incidentalome’ – the large amount of genetic data that these tests generate which may be important but which was incidental – that is, had nothing to do with why the patient underwent DNA analysis in the first place,” said Jonathan Berg, MD, PhD, assistant professor of clinical genetics and a member of UNC Lineberger Comprehensive Cancer Center.

“Our team is faced with this issue in a clinical trial we are conducting called the NC GENES study.  So we put together a framework that classifies genetic variations into three different ‘bins’:  those that are linked to a treatable or preventable condition (the medically actionable); those that have a known link to conditions for which we don’t have treatment options; and those for which there is no known direct association between a genetic variation and a disorder,” he said.

The team then created an informatics approach to carry out a structured analysis on these three ‘bins’.

“While there are still some challenges, we believe that this approach facilitates the analysis and streamlines the ability of the molecular analyst to go through a lot of data very quickly, providing more timely results to physicians and patients,” says Berg.

Berg notes that the researchers had to set a very high bar for the genetic variants reported to patients and physicians, taking into account that there are errors in all of the current databases of known disease-causing mutations and that they contain variants that are probably not disease causing, due to unavoidable errors in data processing and other aspects of genetic research.  However, because most hereditary disorders are very rare, disease causing mutations are highly unlikely.

“In epidemiologic terms we valued specificity over sensitivity.  We will have some false negatives because we are ignoring some genetic variants that we don’t understand well or that are very unlikely to occur.  However, as researchers who also work with patients, we know that there are significant consequences to false positive results for genetic disorders and given the rarity of many of these disorders we think this is an appropriate risk,” he argues.

Berg and his collaborators, which include James Evans, MD, PhD, Bryson Distinguished Professor of Genetics Research and a member of UNC Lineberger, are also studying the practical consequences of our ability to pinpoint disease-causing mutations in the genome.

“We hope that this methodology will enhance our ability to quickly translate a large amount of data into findings that are useful to physicians and patients, allowing us to study important issues like patient preference for learning about their likelihood of developing or passing along a hereditary disease for which there is no treatment,” said Evans.

“These are important ethical considerations, and currently there exist no best practices because this technology is still relatively new,” he added.

In addition to Berg and Evans, the research team included Michael Adams, MS, and Kristy Lee, MS from the UNC Department of Genetics, Kirk Wilhelmsen, MD, PhD from the Department of Genetics, the Carolina Center for Genome Sciences (where Berg and Evans are also members), and the Renaissance Computing Institute, and Nassib Nassar, PhD, Chris Bizon, PhD, and Charles Schmitt, PhD, from the Renaissance Computing Institute.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,000+ scientific posters on ePosters
  • More Than 4,400+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Scientists Create Painless Patch of Insulin-Producing Beta Cells to Control Diabetes
Researchers at UNC and NC State have developed the new “smart cell patch” to treat millions of people with type-1 and advanced type-2 diabetes.
Saturday, March 19, 2016
Device Hits Pancreatic Tumors Hard With Toxic Four-Drug Cocktail, Sparing The Body
Researchers at UNC have revealed that an implantable device can deliver a particularly toxic cocktail of drugs directly to pancreatic tumors to stunt their growth and shrink them.
Saturday, February 27, 2016
Stem Cells Turned into Cancer Killers
Skin cells turned cancer-killing stem cells hunt down and destroy the deadly remnants inevitably left behind when a brain tumor is surgically removed.
Friday, February 26, 2016
Stem Cells Turned into Cancer Killers
Skin cells turned cancer-killing stem cells hunt down and destroy the deadly remnants inevitably left behind when a brain tumor is surgically removed.
Friday, February 26, 2016
Potential Brain Cancer Drug Target
UNC Lineberger researchers have reporedt that when they removed Dicer from preclinical models of medulloblastoma, a common type of brain cancer in children, they found high levels of DNA damage in the cancer cells, leading to the cells’ death.
Friday, January 08, 2016
New Path for ALS Drug Discovery
For the first time, scientists pin down the structure of toxic clumps of a protein associated with a large number of ALS cases, opening new avenues in the pursuit of drugs to stem the disease.
Thursday, January 07, 2016
New Way to Force Stem Cells to Become Bone Cells
Potential therapies based on this discovery could help people heal bone injuries or set hardware, such as replacement knees and hips.
Monday, November 16, 2015
Autism Mutation Isolated – Could Be Treated with Specific Enzyme
The research shows the precise cellular mechanisms that could increase risk for the disorder and how an existing drug might help thousands of people with autism.
Monday, August 10, 2015
Researchers Find Two Biomarkers Linked to Severe Heart Disease
Study suggests that elevated oxidized LDL cholesterol and fructosamine – a measure of glycated proteins in blood sugar – are signposts for the development of severe coronary disease, especially in females.
Thursday, July 09, 2015
A Single-Cell Breakthrough
UNC School of Medicine scientist Scott Magness and collaborators use their newly developed technology to dissect properties of single stem cells. The advancement will allow researchers to study gastrointestinal disorders and cancers like never before.
Thursday, March 19, 2015
New Gene Therapy For Hemophilia Shows Potential As Safe Treatment
Research showed that bleeding events were drastically decreased in animals with hemophilia B. Using a viral vector to swap out faulty genes proved safe and could be used for the more common hemophilia A.
Tuesday, March 17, 2015
Genetically Speaking, Mammals Are More Like Their Fathers
A first of its kind study shows that who we inherit genetic variants from – our mother or father – is crucial for the development of diseases and for research studies aimed at finding causes and potential treatments.
Wednesday, March 04, 2015
Key Protein That Allows Plavix To Conquer Platelets Found
The findings could lead to more personalized approaches to controlling platelet activity during heart attacks and other vascular emergencies and diseases.
Wednesday, February 25, 2015
Researchers Silence Leading Cancer-Causing Gene
A novel siRNA-based molecule successfully targets KRAS, a well-studied but hard to halt protein important for cancer development and metastasis.
Monday, November 17, 2014
Blood Test May Help Determine Psychosis Risk
A study led by University of North Carolina at Chapel Hill researchers represents an important step forward in the accurate diagnosis of people who are experiencing the earliest stages of psychosis.
Tuesday, September 23, 2014
Scientific News
Releasing Cancer Cells for Better Analysis
A new device developed at the University of Michigan could provide a non-invasive way to monitor the progress of an advanced cancer treatment.
Releasing Cancer Cells for Better Analysis
A new device developed at the University of Michigan could provide a non-invasive way to monitor the progress of an advanced cancer treatment.
Apricot Kernels Pose Risk of Cyanide Poisoning
Eating more than three small raw apricot kernels, or less than half of one large kernel, in a serving can exceed safe levels. Toddlers consuming even one small apricot kernel risk being over the safe level.
Cell Transplant Treats Parkinson’s in Mice
A University of Wisconsin—Madison neuroscientist has inserted a genetic switch into nerve cells so a patient can alter their activity by taking designer drugs that would not affect any other cell.
Understanding Female HIV Transmission
Glowing virus maps points of entry through entire female reproductive tract for first time.
Genetic Markers Influence Addiction
Differences in vulnerability to cocaine addiction and relapse linked to both inherited traits and epigenetics, U-M researchers find.
Lab-on-a-Chip for Detecting Glucose
By integrating microfluidic chips with fiber optic biosensors, researchers in China are creating ultrasensitive lab-on-a-chip devices to detect glucose levels.
A lncRNA Regulates Repair of DNA Breaks in Breast Cancer Cells
Findings give "new insight" into biology of tough-to-treat breast cancer.
COPD Linked to Increased Bacterial Invasion
Persistent inflammation in COPD may result from a defect in the immune system that allows airway bacteria to invade deeper into the lung.
Detection of HPV in First-Void Urine
Similar sensitivity of HPV test on first void urine sample compared to cervical smear.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,400+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!