HealthPad | genomics

9 years, 8 months ago

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What does it mean if a person has a genetic variant for a specific disease?

David Bowtell

Directory:

Cancer

Tags:

personalized medicine

proteonomics

translational research

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9 years, 8 months ago

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How do genetic mutations translate into personalised medicine?

David Bowtell

Directory:

Cancer

Tags:

personalized medicine

proteonomics

translational research

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joined 9 years, 11 months ago

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David Huntsman

Professor, Departments of Pathology and Laboratory Medicine and Obstetrics and Gynaecology, University of British Columbia

Directory:

Cancer

Expertise:

gynaecological cancers

ovarian cancer

pathology

translational genomics

translational oncology

Dr. David Huntsman is a Professor in the Departments of Pathology and Laboratory Medicine and Obstetrics and Gynaecology at The University of British Columbia (UBC) and is the Dr. Chew Wei Memorial Professor of Gynaelcologic Oncology. He is a a Staff Pathologist at the BC Cancer Agency (BCCA), and a Consulting Pathologist at the Vancouver General Hospital (VGH).

Dr. Huntsman is currently the Director of the BC multidisciplinary ovarian cancer research team (OvCaRe), Medical Director of the Centre for Translational and Applied Genomics (CTAG) at the BCCA, and co-Director of the Genetic Pathology Evaluation Centre (GPEC) at the Jack Bell Research Centre, VGH.

Dr. Huntsman research has led to development of predictive and prognostic tissue based cancer biomarkers for ovarian cancer and a wide variety of other tumour types. His team created a blueprint for subtype specific ovarian cancer control and have been leaders in the application of novel genomics technologies to ovarian cancer. As collaboration is critical in his field, Dr. Huntsman happily leads and engages in a wide number of multidisciplinary research groups. Most recently he has been working on the creation of broad based personalized medicine initiative for British Columbia.

He is the leader of the TFRI sponsored program grant to study the genomes of rare cancers and to translate discoveries made into biomarkers and treatment opportunities. This team hopes to both improve the management of a cluster of rare cancers and develop strategies and ideas that will have broader clinical impact.

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9 years, 11 months ago

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Cancer survival and patient-centered healthcare

HealthPad

Directory:

Cancer

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Since the early 1970s, there's been significant progress in the survival rates of some cancers, in particular testicular, skin, breast, and prostate cancers where the 10-year survival rates in the UK have increased, on average from 46% to 86%.

However, the UK still lags comparable European countries in cancer survival, and for some cancers, particularly lung, esophagus, pancreas and brain, the 10-year survival rates are only about 10% or less.

Late diagnosis
In Britain 50% of cancer patients are diagnosed late. This is the result of GPs misdiagnosing, and patient's reluctance to visit their doctors.

In his book, Malignant, Stanford University professor S Lochlann Jain suggests cancer diagnosis is missed in young adults because, "doctors often work under the misguided assumption that cancer is a disease of older people." For example, 80% of lung cancers are diagnosed at advanced stages.

Cancer survival rates are expected to improve as technology, and self-education develop. This is expected to reduce the role of primary care doctors, increase patient-centered healthcare, and reduce late diagnosis.

British stiff-upper-lip
In emerging countries, cancer patients present late because of a lack of education and money. In the UK, where medicine is free at the point of care, the British stiff-upper-lip is often the cause of late diagnosis.

A 2013 comparative study published in the British Journal of Cancer found that there was little difference in the awareness of cancer symptoms among patients, yet the British were less likely to act on them. It concluded that the traditional British 'stiff-upper-lip' means cancer patients are dying unnecessarily because they don't want to waste their GP's time with their symptoms or are too embarrassed to seek help.

Genomic medicine
A number of studies suggest that doctor-patient relationships are sub-optimal and based on asymmetry of information.

Such relationships will change when patients have access to information on their own DNA. Genomic medicine is a game-changer because of its potential to personalize patient care.

It only takes a few hours to sequence a person's genome, and costs are low and falling. A recent survey suggests that 81% of all US patients would like to have their genome sequenced. Eventually, this will mean that most people will have their genome sequenced so they can be properly cared for if they get sick.

Already some scientists and clinicians have started taking advantage of genomic sequencing, to tailor their approaches to individual differences. In this personalized, patient-centred healthcare environment, primary care doctors are less important, and patients more important. As this transformation occurs, early cancer diagnosis and survival rates are expected to rise.

Technology driven patient-centered health
Increasingly, patients are employing the expanding array of mHealth apps to diagnose and treat their own ailments and this will increase as the technology develops and prices fall.

For example, patients have started using mHealth apps to measure activity, and changes in their vital signs and bodily functions. Current devices clipped to a finger can measure heart rates, and blood oxygen levels and these data can be transmitted to smartphones. Increasingly consumers will use these tools rather than visit primary care clinics.

Takeaways
Technological developments, self-education, and consumers' increased access to their health records, will help to correct the imbalance in information that now exists between doctors and patients.

As this happens, cancers will be diagnosed earlier, primary care centres will disappear, hospitals will exist only for intensive care, and sick patients with long-term chronic illnesses will be monitored and managed remotely from home.

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10 years, 3 months ago