Progress in genomic science has been astronomical over the past few years. In fact, the tipping point that validated the clinical significance of genetic/genomic testing is barely visible in the rearview mirror. As a result, stakeholders ranging from clinicians to regulatory agencies, to professional associations, to payers have begun championing the value that precision medicine delivers in terms of better diagnoses and more effective therapeutic interventions.
For example, in educational materials explaining incidence of dilated cardiomyopathy (DCM), the American Heart Association notes that a full third of DCM patients inherit the condition from their parents or other family members. Germline testing can identify patients with this genetic variant, leading clinicians to a faster diagnosis and earlier treatment. The Food and Drug Administration (FDA) has stated its commitment to approving targeted therapies based on genetic mutations as appropriate. Payers are beginning to issue reimbursement policies to cover the cost of genetic/genomic testing. United Healthcare, for instance, began covering pharmacogenomic panels for patients with anxiety and depression this October.
This leads us to the next great transformation necessitated by precision medicine: implementing the technology infrastructure to govern the ordering and resulting processes inherent to genomics, as well as finding ways to manage the great volumes of data generated by testing.
Precision medicine is already being pursued sporadically across many, if not most, healthcare organizations. Oncologists are likely to be ordering somatic tests to better profile patient tumors so targeted therapies can be delivered. Family practice, behavioral medicine and psychiatric departments are using pharmacogenomics to understand how well (or poorly) patients metabolize specific medications and which might trigger side effects or safety concerns. These insights allow them to prescribe the right treatment at the right dose the first time around instead of spending months on a trial-and-error approach.
Cardiovascular and neurology specialists (among others) order germline tests to help them diagnose, treat and gain new insights into many common conditions such as congestive heart failure, arrhythmias, aneurysms, epilepsy, nerve pain and dementia. Some health systems even order germline tests on all newborns so a full genetic profile is available which can be used throughout the individuals lifetime.
The value of the data being generated through these clinical pockets cannot be understated. It carries information that can be used across a multitude of care settings far into the future to help providers and specialists arrive at more accurate diagnoses faster, and identify the most effective treatment sooner. This, in turn, can help healthcare leaders move the needle to improve quality efforts and optimize revenue while reducing the risk associated with poor outcomes.
To realize full value, however, healthcare organizations must ensure genetic/genomic test results are readily available to clinicians at the point of care and in a vocabulary that makes them meaningful. Unfortunately, few health systems have invested in the IT resources that can make this possible. Currently, test results are ordered in a vacuum and results are often returned in a PDF that will be hard to access. In addition, the information is relayed in a nomenclature unfamiliar to clinicians, so they struggle to understand how to apply the results to specific patient circumstances.
Unless these concerns are addressed, healthcare will simply reenact a mistake made years ago with the advent of electronic health records: valuable data that can immediately and directly impact care will be locked in a silo, unavailable during clinical decision-making.
As the industry heads into 2020, it must make plans and take action to get ahead of this looming problem. Healthcare IT professionals must be brought to the table to help organizations strategize about their precision medicine initiatives. The key to success with this new standard of care is recognition that data generated by genetic/genomic tests can be used endlessly across the enterprise and over the long term as patient conditions change. Organizations must seek out platforms that will consume genomic test results as discrete data and integrate it with patient-specific clinical information. Likewise, the platforms must be made available within existing workflows, so clinicians can leverage it during decision making and can interrogate the data as patient conditions change and genomic science delivers new insights.
Picture: Feodora Chiosea, Getty Images
Original post:
IT will be key to precision medicine's success in 2020 - MedCity News
- Clemson professor Trudy Mackay elected to the National Academy of Medicine - Clemson News - October 22nd, 2024
- Research sheds new light on the behavior of KRAS gene in pancreatic and colorectal cancer - News-Medical.Net - October 22nd, 2024
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon - Nature.com - October 22nd, 2024
- Tailored Genetic Medicine: AAV Gene Therapy and mRNA Vaccines Redefine Healthcare's Future - Intelligent Living - October 22nd, 2024
- The Genetic Link to Parkinson's Disease - Hopkins Medicine - August 27th, 2022
- Epic Bio makes gene therapies by editing the epigenome - Labiotech.eu - August 27th, 2022
- Ovid turns to gene therapy startup to restock drug pipeline - BioPharma Dive - August 27th, 2022
- Whole-exome analysis of 177 pediatric patients with undiagnosed diseases | Scientific Reports - Nature.com - August 27th, 2022
- First Gene Therapy for Adults with Severe Hemophilia A, BioMarin's ROCTAVIAN (valoctocogene roxaparvovec), Approved by European Commission (EC) -... - August 27th, 2022
- Arbor Biotechnologies Enters into Agreement with Acuitas Therapeutics for Lipid Nanoparticle Delivery System for Use in Rare Liver Diseases - BioSpace - August 27th, 2022
- ElevateBio Partners with the California Institute for Regenerative Medicine to Accelerate the Development of Regenerative Medicines - Business Wire - August 27th, 2022
- ElevateBio and the University of Pittsburgh Announce Creation of Pitt BioForge BioManufacturing Center at Hazelwood Green to Accelerate Cell and Gene... - August 27th, 2022
- Genetic variants cause different reactions to psychedelic therapy - The Well : The Well - The Well - August 27th, 2022
- Personalized Medicine for Prostate Cancer: What It Is and How It Works - Healthline - August 27th, 2022
- Four radical new fertility treatments just a few years away from clinics - The Guardian - August 27th, 2022
- Why are Rats Used in Medical Research? - MedicalResearch.com - August 27th, 2022
- The Columns Stepping Stones in STEM Washington and Lee University - The Columns - August 27th, 2022
- Study points to new approach to clearing toxic waste from brain Washington University School of Medicine in St. Louis - Washington University School... - August 27th, 2022
- ALS Gene Therapy SynCav1 Found to Extend Survival in Mouse Model |... - ALS News Today - August 27th, 2022
- A New Kind of Chemo | The UCSB Current - The UCSB Current - August 27th, 2022
- Unraveling the mystery of who gets lung cancer and why - Genetic Literacy Project - June 16th, 2022
- How diet and the microbiome affect colorectal cancer - EurekAlert - June 16th, 2022
- Akouos Presents Nonclinical Data Supporting the Planned Clinical Development of AK-OTOF and Strategies for Regulated Gene Expression in the Inner Ear... - May 20th, 2022
- Money on the Move: SwanBio, Remix, Locus, Mirvie and More - BioSpace - May 20th, 2022
- DiNAQOR Opens DiNAMIQS Subsidiary to Partner with Gene Therapy Companies Bringing New Treatments to Patients - PR Newswire - May 20th, 2022
- Brain tumor growth may be halted with breast cancer drug - Medical News Today - May 20th, 2022
- LogicBio Therapeutics to Present at HC Wainwright Global Investment Conference - PR Newswire - May 20th, 2022
- Genascence Announces Data From Phase 1 Clinical Trial on GNSC-001, Company's Lead Program in Osteoarthritis, Presented at American Society of Gene... - May 20th, 2022
- Encoded Therapeutics Presents Nonclinical Data Showing Genomic Medicine Platform Yields Selective Expression to Optimize Gene Therapy Performance at... - May 20th, 2022
- California, Other States to Cover Rapid WGS of Newborns Under Medicaid, but Questions of Access Loom - GenomeWeb - May 20th, 2022
- Researchers Identify Role of 'Sonic the Hedgehog' Gene in Bone Repair - BioSpace - May 20th, 2022
- Targeting the Uneven Burden of Kidney Disease on Black Americans - The New York Times - May 20th, 2022
- ASC Therapeutics, U Mass Medical School, and the Clinic for Special Children Announce Podium Presentation of Safety and Efficacy in Murine and Bovine... - May 20th, 2022
- UC Davis Looks to Expand Genetic Breast Cancer Risk Education, Outreach for Hispanic Women - Precision Oncology News - May 20th, 2022
- Fly Researchers Find Another Layer to the Code of Life - Duke Today - May 20th, 2022
- CANbridge-UMass Chan Medical School Gene Therapy Research Presented at the American Society of Gene and Cell Therapy (ASGCT) Annual Meeting - Business... - May 20th, 2022
- Omicron BA.4 and BA.5: What to know about the new variants - Medical News Today - May 20th, 2022
- Krystal Biotech to Present Additional Data on B-VEC from the GEM-3 Phase 3 Study at the Society for Investigative Dermatology Annual Meeting -... - May 20th, 2022
- FDA approves Lilly's Mounjaro (tirzepatide) injection, the first and only GIP and GLP-1 receptor agonist for the treatment of adults with type 2... - May 20th, 2022
- Elucidating the developmental origin of life-sustaining adrenal glands | Penn Today - Penn Today - May 20th, 2022
- 5 questions facing gene therapy in 2022 - BioPharma Dive - January 17th, 2022
- In a First, Man Receives a Heart From a Genetically Altered Pig - The New York Times - January 17th, 2022
- Antibodies, Easy Single-Cell, Genomics for All: Notes from the JP Morgan Healthcare Conference - Bio-IT World - January 17th, 2022
- Using genetics to conserve wildlife - Pursuit - January 17th, 2022
- Genetics of sudden unexplained death in children - National Institutes of Health - January 17th, 2022
- Amicus Therapeutics Reports Preliminary 2021 Revenue and Provides 2022 Strategic Outlook and Revenue Guidance - Yahoo Finance - January 17th, 2022
- Maze Therapeutics Announces $190 Million Financing to Support the Advancement of Nine Precision Medicine Programs and Compass Platform for Genetically... - January 17th, 2022
- How The mRNA Vaccines Were Made: Halting Progress and Happy Accidents - The New York Times - January 17th, 2022
- Press Registration Is Now Open for the 2022 ACMG Annual Clinical Genetics Meeting - PRNewswire - January 17th, 2022
- A Novel Mutation in the TRPM4 Gene | RRCC - Dove Medical Press - January 17th, 2022
- Biomarkers and Candidate Therapeutic Drugs in Heart Failure | IJGM - Dove Medical Press - January 17th, 2022
- Genetic counseling program helps patients take control of their health - Medical University of South Carolina - June 24th, 2021
- One-year-old baby in UAE receives imported genetic medicine to treat rare disease - Gulf News - June 24th, 2021
- Black and non-Hispanic White Women Found to Have No Differences in Genetic Risk for Breast Cancer - Cancer Network - June 24th, 2021
- What's in your genes | The Crusader Newspaper Group - The Chicago Cusader - June 24th, 2021
- Immusoft Announces Formation of Scientific Advisory Board - Business Wire - June 24th, 2021
- Arrowhead Presents Positive Interim Clinical Data on ARO-HSD Treatment in Patients with Suspected NASH at EASL International Liver Congress - Business... - June 24th, 2021
- Pacific Biosciences and Rady Children's Institute for Genomic Medicine Announce its First Research Collaboration for Whole - GlobeNewswire - June 24th, 2021
- Despite the challenges of COVID-19, Yale-PCCSM section members continued their work on scientific papers - Yale School of Medicine - June 24th, 2021
- Veritas Intercontinental: Genetics makes it possible to identify cardiovascular genetic risk and prevent cardiac accidents such as those that have... - June 24th, 2021
- New Research Uncovers How Cancers with Common Gene Mutation Develop Resistance to Targeted Drugs - Newswise - June 24th, 2021
- Celebrate the Third Annual Medical Genetics Awareness Week April 13-16, 2021 - PRNewswire - February 14th, 2021
- How will WNY fare in the race between vaccines and coronavirus variants? - Buffalo News - February 14th, 2021
- Myriad Genetics to Participate in Multiple Upcoming Health and Technology Conferences - GlobeNewswire - February 14th, 2021
- ASCO GU 2021: The Landscape of Genetic Alterations Using ctDNA-based Comprehensive Genomic Profiling in Pat... - UroToday - February 14th, 2021
- The Human Genome and the Making of a Skeptical Biologist - Scientific American - February 14th, 2021
- Breast Cancer Gene Mutations Found in 30% of All Women - Medscape - February 1st, 2021
- Mysterious untreatable fevers once devastated whole families. This doctor discovered what caused them - CNN - February 1st, 2021
- CCMB team identifies variants of genes that metabolise drugs - BusinessLine - February 1st, 2021
- NeuBase Therapeutics Announces Acquisition of Gene Modulating Technology from Vera Therapeutics - GlobeNewswire - February 1st, 2021
- Copy number variations linked to autism have diverse but overlapping effects - Spectrum - February 1st, 2021
- Genomes, Maps, And How They Affect You - IFLScience - February 1st, 2021
- SMART Study Finds 22q11.2 Microdeletion Prevalence Much Higher than Expected - PRNewswire - February 1st, 2021
- Are Phages Overlooked Mediators of Health and Disease? - The Scientist - February 1st, 2021
- When Your Chance for a Covid Shot Comes, Dont Worry About the Numbers - Kaiser Health News - February 1st, 2021
- Global CRISPR Gene Editing Market: Focus on Products, Applications, End Users, Country Data (16 Countries), and Competitive Landscape - Analysis and... - February 1st, 2021
- The First Targeted Therapy For Lung Cancer Patients With The KRAS Gene MutationExtraordinary Results With Sotorasib - SurvivorNet - February 1st, 2021
- Genetic Testing: MedlinePlus - January 29th, 2021
- 21 Common Genetic Disorders: Types, Symptoms, Causes ... - January 29th, 2021
- Genetic Counseling Online Course - School of Medicine ... - January 29th, 2021