Using a multi-stranded, computer-based approach encompassing genetic and chemical information, clinical data, and the medical literature can help improve outcomes for individuals with inherited cardiomyopathy, according to an international group of researchers.
Many cardiovascular conditions have a genetic basis and inherited cardiomyopathy, where abnormal changes in the heart muscle can cause arrythmia and sudden cardiac death, is one such example. Around 1 in 500 people, have inherited cardiomyopathies, making it the most common form of genetic heart disease.
The recent collapse of Danish soccer star Christian Eriksen, likely due to such a cardiac condition, highlights the importance of early diagnosis and preventative measures for these individuals. However, while a lot is now known about the genetics of inherited arrythmias and cardiomyopathies, it is a complex area and good communication between medical geneticists, cardiologists and primary care doctors can be key to good patient outcomes.
Collating available information without help can also be difficult for clinicians. A major hurdle in adequate clinical and genetic care is that information is so dispersed across the literature. This increases the risk of misinterpretation, and leads to suboptimal care, Job Verdonschot, a researcher at the Maastricht University Medical Center who has a focus on this area, but was not involved in the current study, told Clinical OMICs.
Rameen Shakur is currently based at Massachusetts Institute of Technology and was previously a Wellcome fellow at the University of Cambridge and Wellcome Sanger Institute. He led the current study, which is published in the journal npj Genomic Medicine, which was a collaboration between researchers from the Wellcome Sanger Institute, University of Cambridge, Massachusetts Institute of Technology and Lund University.
To better assimilate genomic data into real world clinical options for the millions of patients with inherited cardiovascular diseases and their families, we require a more integrated appreciation of genetic, physical, bio-chemical and clinical data, Shakur explained in a press statement.
There is a lot of variation between individuals with cardiomyopathy in terms of disease prognosis and suitability of treatments, which can make accurate diagnosis and outcome prediction difficult for clinicians who often employ a wait and see approach.
To try and improve outcomes for patients, Shakur and colleagues created a computer-based model to better define the cardiomyopathy prognosis associated with different genetic variants impacting the function of cardiac troponin T, a protein that forms part of a complex of similar proteins that regulate and control cardiac muscle contraction. The model included genomic data and biological and chemical information about troponin function and impact on cardiomyopathy outcome.
Shakur and team also analyzed data from almost 1000 individuals included in around 100 earlier studies to help improve the accuracy of clinical outcome prediction for individuals with these mutations and to look for possible drug targets for treating these patients.
They found that there were hotspots of variation in the troponin T gene TNNT2 associated with higher or lower risk for carriers. For example, variation at regions 90130 was linked to increased risk for sudden cardiac death and variation located at regions 131179 with heart failure death and transplantation. In contrast, variation at locations 189 and 200288, was linked to lower risk outcomes.
The researchers now want to assess if new drugs to target these hotspots could be developed. The patient process in inherited cardiovascular disease, unlike oncology, has sort of lagged behind in actually getting to grips with developing personalized therapeutics, Shakur told Clinical OMICs. He explained that he and his colleagues are currently working on translating their findings into developing new more personalized therapeutics for individuals with these genetic variants.
In areas such as cardiology and oncology, where large amounts of clinical and genetic data need to be analyzed, adopting a computer-based approach, often using artificial intelligence approaches such as machine learning, can make diagnosis, outcome prediction and treatment more effective and efficient.
Verdonschot agrees that a multi-stranded and collaborative approach is key to improving patient outcomes. What is desperately needed is that working groups from professional societies, or project teams get together and produce a synthesis of all that is known to guide choices about the best personal strategies for patients. These can then be evaluated in the context of clinical trials, or observational studies.
Shakur thinks one way to improve collaboration and communication is to provide cardiologists with better training in genetics and genomics-based approaches and to continue to provide funding to academic projects with a focus on cardiovascular genetics.
He also thinks improved patient knowledge will help drive precision cardiology forward. Theres a whole new generation of patients now who understand their condition. And I think it will be an interesting few years moving forward, because now patients are more in tune with whats going on.
This study is the next step in integrating precision cardiology into clinical care, and working more closely with clinical genetics colleagues and patients with their families, bridging the gap between research and day to day treatment decisions. This research has allowed us to also open the door to potential new therapies, which we hope to introduce soon.
Read the rest here:
Multi-Stranded Approach Needed to Improve Outcomes for Inherited Heart Disease - Clinical OMICs News
- F.D.A. Says Millions Got Unapproved Drugs, Should the new bioequivalence and bioanalytical guidelines for 2010, be made more stringent [Last Updated On: April 15th, 2010] [Originally Added On: April 15th, 2010]
- F.D.A. Says Millions Got Unapproved Drugs, Should the new bioequivalence and bioanalytical guidelines for 2010, be made more stringent [Last Updated On: April 15th, 2010] [Originally Added On: April 15th, 2010]
- GSK, MedTrust launch iPhone/iPad app for cancer trials [Last Updated On: June 11th, 2010] [Originally Added On: June 11th, 2010]
- GSK, MedTrust launch iPhone/iPad app for cancer trials [Last Updated On: June 11th, 2010] [Originally Added On: June 11th, 2010]
- 22 Million Australian Cloud computing initiative to benefit life science researchers [Last Updated On: June 19th, 2010] [Originally Added On: June 19th, 2010]
- GE Healthcare announces SaaS Electronic Medical Records Management [Last Updated On: June 19th, 2010] [Originally Added On: June 19th, 2010]
- 22 Million Australian Cloud computing initiative to benefit life science researchers [Last Updated On: June 19th, 2010] [Originally Added On: June 19th, 2010]
- GE Healthcare announces SaaS Electronic Medical Records Management [Last Updated On: June 19th, 2010] [Originally Added On: June 19th, 2010]
- How useful would be the Single-patient clinical trials for improving the hopes of Personalized medicine [Last Updated On: August 12th, 2010] [Originally Added On: August 12th, 2010]
- How useful would be the Single-patient clinical trials for improving the hopes of Personalized medicine [Last Updated On: August 12th, 2010] [Originally Added On: August 12th, 2010]
- Life Sciences at Oracle Open World 2010 [Last Updated On: October 11th, 2010] [Originally Added On: October 11th, 2010]
- ChIP Enrichment Analysis can speed up drug discovery [Last Updated On: October 11th, 2010] [Originally Added On: October 11th, 2010]
- GE’s healthymagination initiative lead Smart Patient Room to improve patient safety goes live at Bassett Medical Center [Last Updated On: October 11th, 2010] [Originally Added On: October 11th, 2010]
- The SaaS impact on solution selling for ISVs (via Inner Lining) [Last Updated On: October 11th, 2010] [Originally Added On: October 11th, 2010]
- Oracle starts the Oracle Health Sciences Institute (OHSI), in partnership with Sun Labs [Last Updated On: October 11th, 2010] [Originally Added On: October 11th, 2010]
- 70% of Pharmaceutical organisations outsource at least one PV activity. This level is expected to increase to 80% by 2012 [Last Updated On: October 26th, 2010] [Originally Added On: October 26th, 2010]
- Insurance coverage for healthcare IT software, to protect healthcare IT companies from damages inflicted by their software [Last Updated On: November 7th, 2010] [Originally Added On: November 7th, 2010]
- India announce Heart Surgery for $1000 USD [Last Updated On: November 7th, 2010] [Originally Added On: November 7th, 2010]
- Indian Healthcare IT market & Oracle’s presence in Indian Healthcare [Last Updated On: November 7th, 2010] [Originally Added On: November 7th, 2010]
- Insurance coverage for healthcare IT software, to protect healthcare IT companies from damages inflicted by their software [Last Updated On: November 7th, 2010] [Originally Added On: November 7th, 2010]
- India announce Heart Surgery for $1000 USD [Last Updated On: November 7th, 2010] [Originally Added On: November 7th, 2010]
- Indian Healthcare IT market & Oracle’s presence in Indian Healthcare [Last Updated On: November 7th, 2010] [Originally Added On: November 7th, 2010]
- Harvard Medical Schools new automated safety surveillance system provides faster early warnings in the postmarket evaluation of medical device safety [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- SalesForce.com partner introduces CRM for clinical trial management on Force Platform [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- Widespread fraud in the Clinical Trial of Drugs is pervasive event in United States [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- Scott Stern Kellogg School of Management speaks about “New Drug Development: From Laboratory to Blockbuster to Generic,” [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- MNC Pharma tries to capture the $1.9 billion Indian OTC market by selling Drugs through India’s 170000 post offices [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- collaborative clinical trials management software for Central Laboratories [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- Clinical Trial and Pharmacovigilance process automation [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- Microsoft in Clinical Trials Management System (CTMS) and Electronic Data Capture (EDC) [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- Oracle Business Intelligence Enteprise Edition (OBIEE) for Clinical Trial Management System (CTMS) [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- trends in the life sciences and pharma research and development outsourcing (RDO) [Last Updated On: November 29th, 2010] [Originally Added On: November 29th, 2010]
- Sanofi-Aventis ties up with Oxford Univ for oncology research in India [Last Updated On: December 20th, 2010] [Originally Added On: December 20th, 2010]
- PharmaNet unveils touch screen capable data capture platform for Phase I Clinical Trials [Last Updated On: December 20th, 2010] [Originally Added On: December 20th, 2010]
- Adverse Events in Hospitals- United States Department of Health Report slams current measures in US hospitals [Last Updated On: December 21st, 2010] [Originally Added On: December 21st, 2010]
- IBM Files Application to Patent The Patent [Last Updated On: January 4th, 2011] [Originally Added On: January 4th, 2011]
- How to improve R&D productivity: the pharmaceutical industry’s grand challenge [Last Updated On: February 14th, 2011] [Originally Added On: February 14th, 2011]
- AstraZeneca Announce Real-World Evidence Data Collaboration [Last Updated On: February 14th, 2011] [Originally Added On: February 14th, 2011]
- How to improve R&D productivity: the pharmaceutical industry’s grand challenge [Last Updated On: February 14th, 2011] [Originally Added On: February 14th, 2011]
- AstraZeneca Announce Real-World Evidence Data Collaboration [Last Updated On: February 14th, 2011] [Originally Added On: February 14th, 2011]
- Medication adherence improves, When Patients Share Their Stories [Last Updated On: March 13th, 2011] [Originally Added On: March 13th, 2011]
- Questions for the CRO [Last Updated On: March 13th, 2011] [Originally Added On: March 13th, 2011]
- Clinical Research Sites Struggle With Increasing Trial Complexity yet most depend on, Google (or other search sites) as the primary information tool [Last Updated On: March 13th, 2011] [Originally Added On: March 13th, 2011]
- Medication adherence improves, When Patients Share Their Stories [Last Updated On: March 13th, 2011] [Originally Added On: March 13th, 2011]
- Questions for the CRO [Last Updated On: March 13th, 2011] [Originally Added On: March 13th, 2011]
- Clinical Research Sites Struggle With Increasing Trial Complexity yet most depend on, Google (or other search sites) as the primary information tool [Last Updated On: March 13th, 2011] [Originally Added On: March 13th, 2011]
- Law of the land can help or destroy the Pharmacovigilance system [Last Updated On: March 27th, 2011] [Originally Added On: March 27th, 2011]
- Law of the land can help or destroy the Pharmacovigilance system [Last Updated On: March 27th, 2011] [Originally Added On: March 27th, 2011]
- Coast To Coast AM - 15.11.2011 - 1/4 - Regenerative Medicine/Dulce Base - Video [Last Updated On: November 29th, 2011] [Originally Added On: November 29th, 2011]
- Coast To Coast AM - 15.11.2011 - 4/4 - Regenerative Medicine/Dulce Base - Video [Last Updated On: November 29th, 2011] [Originally Added On: November 29th, 2011]
- HIV Resistant Genes...Rhesus Negative, Excess PK [Last Updated On: November 30th, 2011] [Originally Added On: November 30th, 2011]
- Indian Government’s new dose of strong medicine to bring cheers to Foreign Pharma CEOs who cut their teeth by struggling to convince Indian pharma to change sales practices [Last Updated On: December 18th, 2011] [Originally Added On: December 18th, 2011]
- Indian Government’s new dose of strong medicine to bring cheers to Foreign Pharma CEOs who cut their teeth by struggling to convince Indian pharma to change sales practices [Last Updated On: December 18th, 2011] [Originally Added On: December 18th, 2011]
- Drug Reps Soften Their Sales Pitches, as pharma learns from Disney [Last Updated On: January 15th, 2012] [Originally Added On: January 15th, 2012]
- Drug Reps Soften Their Sales Pitches, as pharma learns from Disney [Last Updated On: January 15th, 2012] [Originally Added On: January 15th, 2012]
- Oracle Unveils Oracle® Health Sciences Omics Data Bank as Part of Oracle Health Sciences Translational Research Center [Last Updated On: January 29th, 2012] [Originally Added On: January 29th, 2012]
- Oracle Unveils Oracle® Health Sciences Omics Data Bank as Part of Oracle Health Sciences Translational Research Center [Last Updated On: January 29th, 2012] [Originally Added On: January 29th, 2012]
- One Way to Teach Your Boss About Social Media [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- “The Banks Can Do It, Why Can’t Hospitals?” [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- Internet on any Display Device, or internet on TV at low cost can it transform Healthcare or Clinical Research [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- Is Life Sciences the New Frontier for Analytics? [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- Internet on any Display Device, or internet on TV at low cost can it transform Healthcare or Clinical Research [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- Is Life Sciences the New Frontier for Analytics? [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- Regenerative Medicine: Current Concepts and Changing Trends - Video [Last Updated On: February 12th, 2012] [Originally Added On: February 12th, 2012]
- bluebird bio Appoints David Davidson, M.D., as Chief Medical Officer [Last Updated On: February 16th, 2012] [Originally Added On: February 16th, 2012]
- privacy controlled social networking to connect patients with caregivers [Last Updated On: February 19th, 2012] [Originally Added On: February 19th, 2012]
- SOCIAL CRM and its Impact on Pharmaceutical Industry [Last Updated On: February 19th, 2012] [Originally Added On: February 19th, 2012]
- SOCIAL CRM and its Impact on Pharmaceutical Industry [Last Updated On: February 19th, 2012] [Originally Added On: February 19th, 2012]
- privacy controlled social networking to connect patients with caregivers [Last Updated On: February 19th, 2012] [Originally Added On: February 19th, 2012]
- British Government launches Government Cloud Store with 257 Cloud Computing Suppliers [Last Updated On: February 26th, 2012] [Originally Added On: February 26th, 2012]
- Patient Adherence Investments by Pharma Companies Current Scenario [Last Updated On: February 26th, 2012] [Originally Added On: February 26th, 2012]
- Pharma looks to mobile strategies to effectively reach prescribers | mHIMSS [Last Updated On: February 26th, 2012] [Originally Added On: February 26th, 2012]
- British Government launches Government Cloud Store with 257 Cloud Computing Suppliers [Last Updated On: February 26th, 2012] [Originally Added On: February 26th, 2012]
- Pharma looks to mobile strategies to effectively reach prescribers | mHIMSS [Last Updated On: February 26th, 2012] [Originally Added On: February 26th, 2012]
- Patient Adherence Investments by Pharma Companies Current Scenario [Last Updated On: February 26th, 2012] [Originally Added On: February 26th, 2012]
- Predictive Analytics for Patient Adherence [Last Updated On: March 4th, 2012] [Originally Added On: March 4th, 2012]
- Predictive Analytics for Patient Adherence [Last Updated On: March 4th, 2012] [Originally Added On: March 4th, 2012]
- Genetic manipulation boosts growth of brain cells linked to learning, enhances effects of antidepressants [Last Updated On: March 10th, 2012] [Originally Added On: March 10th, 2012]
- Can “Clinical Data Integration on the Cloud” be a reality? [Last Updated On: March 11th, 2012] [Originally Added On: March 11th, 2012]
- Can “Clinical Data Integration on the Cloud” be a reality? [Last Updated On: March 11th, 2012] [Originally Added On: March 11th, 2012]