Aug 7, 2017 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology
Phenotypic data combined with artificial intelligence provides a new biomarker for genetic laboratories to use when diagnosing disease
Researchers are demonstrating that facial analysis and facial recognition technology can play a useful role in helping pathology and medical laboratory scientists diagnose disease. This is just the latest example of how advances in different technologies can add new sources of biomarkers for clinical laboratories.
Biomarkers used by clinical laboratories and anatomic pathologists are usually biological substances or states that can be measured during testing either in vivo or in vitro. However, clinical laboratories may soon be working with biomarkers based on measurable aspects of external human anatomy. One such biomarker employs facial analysis and facial recognition technology to produced phenotypic data that could help pathologists diagnose rare genetic disorders. A human phenotype is data comprised of a person’s “observable characteristics or traits.”
Phenotypic Data from Photographs
Three genomics companies: FDNA, GeneDx, and Blueprint Genetics, are collaborating on a unique project, dubbed Face2Gene Labs. They are using a facial recognition application called Face2Gene developed by FDNA. The application uses artificial intelligence (AI) and phenotyping technology to extract data from facial photographs of patients. The data is then examined and compared to a database of hundreds of thousands of patterns that were generated from photos of patients with known rare genetic disorders. The algorithm then compiles a list of possible diagnoses. The goal is to produce phenotypic data that clinicians can transmit in real-time directly to medical laboratories for analysis.
“Trying to diagnose patients with genetic sequencing is like searching for a pin in a 22,000-needle haystack,” stated Dekel Gelbman, CEO, FDNA, in a news release. “By providing accurate phenotypic and clinical data to the lab directly at the point of genetic interpretation, we are truly realizing the promise of precision medicine. And, with the power of artificial intelligence behind it, clinicians will be pointed toward potential diagnoses that they may have never otherwise considered.”
The Face2Gene application developed by FDNA uses artificial intelligence to compare digital photographs of patients’ faces against hundreds of thousands of stored patterns to help clinicians identify genetic disorders in children. (Photo copyright: FDNA.)
Solomon goes on to praise GeneDx and Blueprint Genetics as examples of innovative and renowned labs adopting technology that will lead the way in pinpointing rare disease and promote further medical advancements.
“This is an important collaboration for several reasons,” states Ben Solomon, MD, a Clinical Geneticist and Managing Director of GeneDx, in the news release. “It’s a great way to leverage clinical and genetic information and machine learning approaches to find answers for the clinicians, patients, and families GeneDx serves. Aside from providing answers, this integration will make the diagnostic testing process easier, smoother, and more enjoyable for clinicians.”
85% Increase in Diagnostic Yield with Addition of Phenotypic Data
A recent multi-center study called PEDIA (short for Prioritization of Exome Data by Image Analysis) looked into the accuracy of genetic testing when using FDNA’s Face2Gene tool. The study, conducted by researchers at the Berlin Institute of Health and Charité University of Medicine in Berlin, showed promising results of the collaboration.
“We estimate that the addition of phenotypic features [encoded in HPO terms] increases the diagnostic yield to about 60% [from 25% without],” stated Peter Krawitz, MD, PhD, and Principal Investigator for PEDIA. “When adding facial analysis, FDNA’s technology, to that process, the diagnostic yield increases to more than 85%,” he explained in the FDNA news release.
The Rarity Paradox and Diagnosing Genetic Disorders in Children
According to Global Genes, a rare disease patient advocacy non-profit organization, one in 10 Americans (approximately 30 million people) suffer from a rare genetic disorder. These disorders also affect the same percentage of people worldwide, or about 350 million people. There are more than 7,000 distinct rare diseases known to exist and approximately 80% of those illnesses are caused by faulty genes. In addition, about half of the people affected by rare genetic illnesses are children.
“We call it the rarity paradox,” stated Gelbman in an article published in Wired. “Each rare disease in itself affects very few people, but on aggregate the effect is pretty staggering.”
The three companies hope their collaboration will help clinicians determine faster, more accurate diagnoses, while diminishing anxiety among patients and their families regarding the unknowns of rare genetic disorders.
“Since 2012, Blueprint Genetics has been developing technological innovations in sequencing and clinical interpretation to improve the quality and performance of rare disease diagnostics,” noted Tero-Pekka Alastalo, MD, PhD, President, Chief Medical Officer of Blueprint Genetics, in the FDNA news release. “It’s great to see how these innovations are now helping the genetics community and patients suffering from inherited disorders. Combining these technological innovations with our transparent approach to diagnostics and next generation phenotyping tools like Face2Gene represents the next steps forward in molecular genetic diagnostics.”
Pathology groups and clinical laboratories are advised to monitor this exciting development in genomic research. It illustrates how unrelated technologies, such as facial analysis software, could soon be used for diagnostic purposes to detect the presence of genetic disorders, and to determine the best therapies for patients. Labs will want to be prepared to engage with clinicians who adopt this technology and to answer patients’ questions about it.
—JP Schlingman
Related Information:
FDNA Announces Collaboration with GeneDx and Blueprint Genetics in the Launch of Face2Gene LABS
FDNA Expands Facial Analysis Reach to 2,000 Syndromes
Groups Explore Facial Analysis Software for Inherited Disease Diagnosis, Research
Your Face Could Reveal if You Have a Rare Disease
Face2Gene: Take a Headshot – Get a Diagnosis
Mar 16, 2017 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Every medical laboratory ready to begin the move away from fee-for-service payment and towards value-based reimbursement needs to start offering lab tests that support the practice of precision medicine
Nearly every clinical laboratory and pathology group in America today is aware of the opportunity to provide medical laboratory tests that enable physicians to successfully practice precision medicine. The goal of precision medicine is to enable a patient to get a more accurate diagnosis, receive the most appropriate therapy, and have his/her condition monitored with unprecedented insight during the course of treatment.
The good news for the clinical laboratory industry concerning precision medicine is that it is the fastest-growing sector of lab testing and these are the tests that contribute the greatest value in patient care. For example, molecular and genetic tests are revolutionizing the diagnosis and treatment of infectious disease. These are the clinical lab tests that enable a physician to identify the specific subtype of the bacteria or virus, then help him or her select the therapeutic drug that will have maximum benefit for the patient.
Clinical Laboratories Support Cancer Diagnosis with Companion Diagnostic Tests
It is equally true that the diagnosis and treatment of cancer is undergoing a major transformation. Genetic knowledge is being used to develop both diagnostic tests and new therapies that enable physicians to better diagnose cancer, and then treat it with the drugs identified by a companion diagnostic test as having the best potential to cure the patient or slow the progression of the disease.
But if there is an area of precision medicine with immense potential, it is pharmacogenomics and its associated testing.
In 2015, the Kaiser Family Foundation reported that more than four billion prescriptions were filled in the United States. As science understands more about the human genome, proteome, metabolome, and microbiome (to name just a few of the “omes”), it becomes possible to design clinical laboratory tests that:
1. Contribute to a more accurate diagnosis;
2. Identify which prescription drugs will be of the greatest benefit; and
3. Inform the physician as to which drugs will not be effective and may even be harmful to the patient.
More Good News for Medical Laboratories
There is even more good news. Many clinical laboratories, hospital labs, and pathology groups already have lab instruments capable of performing the tests used in precision medicine. For these labs, no major up-front investment is needed to begin offering tests that allow physicians to practice precision medicine.
“Many of our lab clients got started in this way,” stated Don Rule, MBA, Founder and Chief Executive Officer of Translational Software in Bellevue, Wash. “They realized that their existing lab instruments could run some of the lab tests physicians use when practicing precision medicine. This would be a low-cost way to enter the precision medicine field and they could, on a small scale with minimal risk, begin offering these tests to gain experience, learn more about the market, and identify which such tests would have highest value to the physicians in the communities they serve.”
Is Your Pathology Group Interested in Supporting Precision Medicine?
“For a lab that is serious about understanding the current and future clinical demand for precision medicine tests, several careful steps are recommended,” he continued. “One step is to build demand by educating clinicians and their staffs about the best ways to use these tests to improve patient care. Keep in mind that more of a physician’s reimbursement is now keyed to the patient outcomes they deliver. These doctors recognize that labs helping them do a better job with precision medicine are also helping them demonstrate greater value in the patient care they provide.
“There are other steps required to launch an effective, clinically successful precision medicine testing program,” Rule noted. “For example, labs need to understand how to be paid by the health insurers in their region. That includes getting in-network and teaching physicians and lab staff how to follow each payer’s clinical and coding criteria so that clean claims will be paid in a timely manner.
“Another step is to build the market in a careful fashion,” he emphasized. “For example, labs should identify the thought leaders among their clients and work with them to demonstrate the clinical utility of tests performed in support of precision medicine. And above all, it’s important to focus on patients that are most likely to get some insight from testing. When your lab starts with the right population, it’s remarkable how often you will uncover actionable issues.”
Clinical Labs Can Enter Precision Medicine by Initially Referring Tests
“It’s also feasible for a lab to start its precision medicine strategy by referring out testing in the early stages and using third-party experts to do the interpretations,” Rule advised. “Then, as specimen volume increases, and the lab’s clinical team gains more experience with these molecular and genetic tests, it becomes easy to bring that testing in-house to develop the market further with faster turnaround times and in-house expertise that local physicians appreciate.”
Every clinical lab, hospital lab, and pathology group that is considering how to support precision medicine will want to participate in a special webinar, titled, “What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision Medicine Products.” It will take place on Wednesday, March 22, 2017 at 1 PM EDT.
Two expert speakers will cover the essentials that all labs should know about building a market presence in precision medicine. First to present is Don Rule of Translational Software. Rule currently provides a variety of services to more than 80 lab clients, which includes the annotation and interpretation of gene sequences. In addition, Rule and his team provide consulting expertise to help labs develop their strategies for precision medicine, identify the best tests to offer physicians, and develop the steps needed to obtain network status with payers.
Webinar Will Present the Best Successes of Molecular, Genetic Testing Labs
Rule will share the experiences and best successes of the molecular and genetic testing labs he has worked with since 2009. He will discuss the types of lab tests used in precision medicine in different specialties, identify the fastest-growing sectors, and note which instruments already found in most clinical laboratories can be used to provide lab tests used for precision medicine.
Don Rule (above left), Founder and CEO of Translational Software, and Kyle Fetter (above right), Vice President of Advanced Diagnostics at XIFIN, will share their unique insights, knowledge, and experience at developing a precision medicine lab testing program for clinical laboratories that want to build more market share, make the billing/collections team more effective, and increase revenue. (Photo copyright: Dark Daily.)
As one example, a growing number of long-term care facilities are using tests to practice precision medicine—and paying for these tests under value-based arrangements—because so many of their patients are taking from 10 to 15 prescriptions each day. If a lab test indicates that the patient may not be getting therapeutic benefit from a specific drug (or that there are negative side effects from the polypharmacy), then the long-term care facility is money ahead because of less spending on drugs and the decreased care costs from patients who remain healthier. In the extreme case, the care facility might lose a patient to a skilled nursing facility due to mental fog or a fall that is precipitated by adverse drug effects.
Making the Case for a Precision Medicine Lab Testing Program
Additional topics to be discussed are:
• How to make the case to administration and the clinicians;
• How to build demand; and
• How to identify thought leaders and work with them to educate the physicians in the lab’s service region.
The second speaker will address the important topic of how to get paid. Kyle Fetter, MBA, is Vice President of Advanced Diagnostics at XIFIN, Inc., based in San Diego. XIFIN provides revenue cycle management (RCM) services to more than 200 labs and handles as many as 300 million lab test claims annually. What this means is that Fetter sees which labs are most successful with their coding, billing, and collections for molecular and genetic tests. He also sees how different payers are handling these claims.
During his presentation, Fetter will provide you and your lab team with valuable knowledge about the best ways to collect the information needed to submit clean claims and be paid promptly. He will illustrate ways to optimize the process of gathering this data and the different software tools that not only make the job easier, but help ensure that a higher proportion of claims are clean and paid at first submission.
Secrets of Preparing for Payer Challenges, Denials, and Audits
But the single best element of Fetter’s presentation will be how labs performing molecular and genetic testing should prepare, as part of the normal course of business, for the inevitable challenges, denials, and audits. He will describe the elements of a system that helps labs be ready to make the case that claims are properly documented, and that they represent appropriate and necessary tests for the patient.
You can find details for this important webinar at this link. (Or copy this URL and paste it into your browser: https://www.darkdaily.com/webinar/what-molecular-and-genetic-testing-labs-need-to-know-to-succeed-with-commercialization-of-their-precision-medicine-products.)
This webinar is perfect for any lab that is already performing molecular and genetic tests, and which is interested in building more market share, making the billing/collections team more effective, and increasing revenue.
For every lab watching the precision medicine space, this webinar is a “must attend” because it delivers to you and your lab team the collective knowledge and insights from two experts who are working with hundreds of the nation’s most successful labs. It is your guaranteed way to get the accurate, relevant information you need to craft your own lab’s strategy for expanding its molecular and genetic testing opportunities.
—Michael McBride
Related Information:
Genetic Tests and Precision Medicine Start to Win Acceptance by Some Payers; Pathologists and Clinical Laboratories Have Opportunity as Advisors
Dec 14, 2016 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Because of ongoing advances in gene sequencing and the data analytics needed to interpret that information, new approaches to clinical care are becoming available to physicians and pathologists
COLD SPRING HARBOR, NEW YORK—Internationally-recognized as a leader in bringing together the brightest minds in genetics, the Banbury Center at the Cold Spring Harbor Laboratory (CSHL) produced a three-day conference here last week to explore the future state of anatomic pathology and identify opportunities in genetic medicine and image sciences that play to the strengths of the nation’s pathology laboratories.
“Evolution and Revolution in Anatomic Pathology: Automation, Machine-Assisted Diagnostics, Molecular Prognostics, and Theranostics” was the title, and the meeting’s organizers were CSHL and the Department of Pathology and Laboratory Medicine at Northwell Health.
Cold Spring Harbor Laboratory Founded in 1890
The Cold Spring Harbor Laboratory has a long history and an enviable reputation. It was founded in 1890 to train teachers in biology. However, by 1904, the laboratory’s mission had been expanded to include research in genetics. In 1924, the research mission was further enlarged to include quantitative biology—in particular, physiology and biophysics.
It was in 1968 that Nobel laureate James Watson, then a professor at Harvard University, accepted the directorship of the Cold Spring Harbor Laboratory while also keeping his professorship at Harvard University. Watson served at some level of leadership until 2008, when he became Chancellor Emeritus. Currently CSHL laboratory houses about 200 research-related personnel. (more…)
