Main Menu
Main Menu
Menu

Personalized treatment of Hepatitis C

by Leave a Comment

Your Hepatitis C infection could be cured – if you knew that you had it.

Ontario recently approved reimbursement of the drug Harvoni® for treatment of the Hepatitis C (HCV) genotype 1 virus. Harvoni® “offers cure rates between 94 and 99%, reduces the incidence of side effects and shortens the duration of treatment to as little as eight weeks” reports the London Free Press. Over 75% of HCV cases in Canada are the genotype 1 variant, according to a recent study.

Harvoni® is part of a new class of HCV drugs called “direct-acting” antivirals that target specific steps in the HCV life cycle. Like “targeted therapeutics” for cancer treatment, these drugs have come out of a better understanding of the molecular basis of the disease. Harvoni® combines two of these direct acting antiviral drugs for greater efficacy. At the moment, Harvoni® is approved in Ontario for only those with late stage disease – those facing death or a liver transplant.

Hepatitis C is a viral disease that causes inflammation of the liver that can lead to cirrhosis, hepatocellular carcinoma and liver transplantation. An Ontario study found that the disease burden of Hepatitis C exceeds that of all other infectious diseases. The disease can progress silently and many don’t know they have the disease until late stage symptoms appear. Over 32,000 deaths are predicted amongst HCV-infected individuals in Canada over the next twenty years from liver-related causes. With new drugs like Harvoni® perhaps many of these deaths can be prevented.

The problem is that half or more people with Hepatitis C don’t even know they have it, according to the Canadian Liver Foundation. And, like Karen Robson, featured in a recent Toronto Star article, not everyone who has Hepatitis C falls into the high risk categories such as injection drug users who are routinely screened for the disease.

The Centers for Disease Control and Prevention (CDC) recommends routine screening of the “baby boomer” cohort in the USA, those born between 1945 and 1965. This is because this group carries a higher risk of Hepatitis C and accounts for 75% of cases. In contrast, screening in Ontario is restricted to certain high-risk groups such as injection drug users.

There have been recent calls for a similar baby boomer screening program in Canada. However, Canadian experts disagree on what percent of carriers in Canada know their status. Reported estimates range from 79% (reported by the Public Health Agency of Canada) down to 30% (Statistics Canada report). If it is true that most people know their status, then investing in population-level screening will have less impact. Recent recommendations from the Canadian Association for the Study of the Liver include a call for a large-scale population survey “to accurately define the prevalence of Hepatitis C in Canada.” This may lead to more comprehensive screening, and now even the possibility of a cure.

By: Kathryn Deuchars, Director, Ontario Personalized Medicine Network

deCODE Genetics shows the precision of population-scale sequencing projects

by Leave a Comment

deCODE Genetics CEO Kari Stefansson recently announced that “We have insights into all living, and some dead, Icelanders… At the push of a button, we could find all the women with mutations in the BRCA2 breast cancer gene.” Mutant BRCA1 and BRCA2 genes are highly predictive of breast and other cancers and women with such mutations, such as actress Angelina Jolie, often choose to undergo mastectomies and other surgeries to reduce their risk. However, many women do not know that they are carriers. deCODE Genetics’ extensive genetic screening within the Icelandic population, coupled with strong genealogical records, means that deCODE Genetics could now identify carriers of mutant BRCA2 genes, not only amongst those in the study, but in the entire population of Iceland.

The challenge is that deCODE Genetics cannot tell any of them. This means that at least 724 women are unaware of their risk of developing breast or ovarian cancer, and at least 360 men are unaware of their risk of developing prostate cancer, as calculated in the Nature Genetics editorial accompanying a slew of recent papers from deCODE Genetics. As is typical with clinical research studies, participants were guaranteed anonymity and therefore researchers are ethically prevented from conveying these research results back to the participants. However many feel that it is equally unethical not to tell them. Because of the genealogical records, the BRCA2 status of almost every Icelander can be predicted, bringing the company’s dilemma beyond those in the study group to the entire population of Iceland.

This dilemma will not be unique to Iceland as many countries are conducting large scale population genetics studies, including UK’s 100,000 Genomes Project and US President Barack Obama’s plan to sequence the genomes of one million U.S. citizens. The dilemma of returning results to research participants can be resolved with revised consent agreements for study members. For example, those signing on to the Ontario Health Study must agree that the study team can contact them if an unexpected discovery was made that could significantly affect their health.

This does not resolve the problem when results can be extrapolated beyond the study group to the general population. In Iceland, the discussion may now move into the public realm and as such it will be interesting to see how its citizens respond to this new, important and very personal information.

By: Kathryn Deuchars, Director, Ontario Personalized Medicine Network

Time to act: Ontario report will highlight the need for better use of digitized health data

by Leave a Comment

The Ontario Personalized Medicine Network (OPMN) is nearing the final stages of preparing the report “Data for Healthcare, Research, Policy and Innovation.” The report highlights the fact that Ontario is at an important juncture in its ability to exploit the rapidly expanding pool of digitized health and other types of information for better care of its citizens. Since our most recent OPMN communication a draft report has been completed highlighting the need for access to high quality health and health-related data by a spectrum of stakeholders. This report is a consensus vision for action based on input from the Data for Health Advisory Group as well as broad stakeholder consultations held over the past year. The advisory group is now reviewing the draft report.

This report is intended for stakeholders in the Ontario health landscape including but not limited to patient representatives, data custodians and data stewards, clinicians, researchers, policy makers, funders and technology developers. The purpose of this document is to initiate a process to develop a comprehensive plan for coordination of data-related efforts across the Ontario health system. The ultimate goal is to enable the province to deliver the best healthcare to its citizens, be a globally-recognized leader in medical research and derive maximal economic benefits from its data assets.

This report:

  • Catalogs important health and health-related data assets and challenges to their use across the realms of care, policy, research and innovation
  • Presents a consensus vision for use of data in the health system to benefit all stakeholders
  • Identifies Ontario stakeholders and various initiatives that are working (often in isolation) to bring this vision to life
  • Recommends next steps for aligning these activities

The final report will be released by Fall, 2015.

By: Kathryn Deuchars, Director, Ontario Personalized Medicine Network

Non-Invasive Prenatal Testing: the tipping point towards mainstream genetic testing?

by Leave a Comment

The emerging use of Non-Invasive Prenatal Testing, or NIPT, may mark an important milestone in the adoption of genomic medicine technologies – the one that gets the attention of primary care doctors and that makes genetic testing a mainstream reality. The use of genomics in medicine has had the biggest clinical impact on the fields of cancer and rare disease diagnosis but have yet to penetrate the realm of the day-to-day world of primary care. NIPT, a new technology for prenatal screening, is poised to change that.

NIPT enables screening for Down syndrome and other fetal chromosomal anomalies. NIPT detects and characterizes cell-free DNA from the fetus that circulates in the mother’s blood. It is a simple blood test and carries none of the risk of pregnancy loss that can occur with similar, but invasive, tests such as amniocentesis. It can also be done much earlier in the pregnancy, as early as nine weeks gestation. Because of this, use of the test is increasing rapidly, with the potential to be used for a much wider range of pregnancies than is currently the case for amniocentesis or other such tests. Already about 20% of the 4 million babies born in the USA each year are being tested this way.

It is not yet clear whether NIPT should replace invasive testing as the primary screen. At the moment only Ontario has moved ahead with funding the test (for mothers over 40 and other specific circumstances) but not as a stand-alone test; follow-up with an invasive test is recommended to confirm a positive result. One aim of the pan-Canadian clinical research project Pegasus is to determine whether NIPT should become the primary screen for chromosomal anomalies. This project is at the mid-point of its four year span. The Pegasus team estimates that adoption of NIPT would avoid up to 9000 amniocentesis procedures each year in Canada, and could prevent the loss of up to 70 normal fetuses.

The ease and increased safety of NIPT makes it appealing for pregnant women outside Ontario’s current eligibility criteria. Women can access the test privately at a cost of between $800-1,200.

By: Kathryn Deuchars, Director, Ontario Personalized Medicine Network

How can personalized medicine improve the use of health care dollars?

by Leave a Comment

The Personalized Medicine Coalition (PMC) has recently released an important and informative white paper discussing how to achieve a balanced approach to the adoption of personalized medicine technologies that reflects the pressures on healthcare spending, improving patient outcomes and fostering innovation. The paper highlights two unique challenges that personalized medicine presents when considering payment models:

  1. The potential of personalized medicine to shift care into a more proactive model of reducing the severity or even preventing disease – payment models must take into account the full value of such outcomes.
  2. How a payment system can recognize “the incremental value of these personalized therapies as more information becomes available as to their effectiveness.” Targeted therapies and companion diagnostics “may not be fully personalized at the time they are first approved” – there may emerge specific subpopulations for which a treatment or diagnostic is most useful. Payers must find ways to encourage continued analysis of the optimal use of a technology that maximizes the use of healthcare resources while rewarding the providers.

As the U.S. considers “alternate payment models” (APMs) in its efforts to reform healthcare delivery and manage costs, the PMC paper points out that “APMs and personalized medicine both hold significant potential to contribute to better, higher value, more individualized care.” The PMC undertook to review APM options in order to avoid “unintended consequences that could limit access to vital services and medicines.”

Policy makers in the U.S. are not alone in seeking to reform healthcare to improve patient access and outcomes while controlling costs. Ontario’s “Patients First: Action Plan for Health Care” drives at the same objectives. Yet at the same time the field of personalized medicine is making dramatic progress in making health care “personalized, precise, preventative and participatory” as Leroy Hood describes it, with rapid advances in DNA sequencing technology, targeted therapeutics and molecular diagnostics. Key to the successful application of emerging personalized medicine technologies will be to recognize and reward the unique value propositions they offer. The PMC paper is an informative discussion of this challenge and one that Ontario policy makers should find helpful.

By: Kathryn Deuchars, Director, Ontario Personalized Medicine Network