What role is telehealth playing in improving the genomics playing field?
How one company is breaking down barriers to implementation of genomics to make Personalised Medicine a growing daily reality in healthcare provision.
What is Genome Medical’s mid to long-term objective in the field of genomics and Personalised Medicine (PM)?
Imagine a day in which your genome is a critical part of your medical record, referred back to often by your provider when making care decisions. This is our long-term objective. Genome Medical cuts through the administrative challenges associated with making genomics part of the standard of care, through a combination of telehealth technology and services.
We help healthcare providers and their patients navigate the rapidly expanding field of genetics and utilise test results to understand the risk for disease, accelerate disease diagnosis, make informed treatment decisions and lower the cost of care. We are shepherding in a new era of genomic medicine by creating easy access, via our telehealth platform, to top clinical genomics specialists for patients and clinicians all around the country.
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What are the challenges in your field and how are you overcoming them?
Genomics is one of the most exciting advancements in health care today. It has tremendous promise for the improved health and wellbeing for all through more precise diagnosis, greater risk awareness and more personalised treatment plans. At the same time, there is a nationwide shortage of genetic experts that makes it impossible for the majority of patients and providers to take advantage of appropriate genetic tests and data. In fact, there are only about 1,500 geneticists and about 2,500 genetic counsellors in clinical practice today in the U.S.
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Additionally, there are over 600 labs that provide more than 70,000 genomic tests. This, combined with a rapidly evolving standard of care, makes it really challenging for physicians to keep up. A staggering 90% of primary care physicians say they don’t know who to test or what to test for. This results in both underutilisation and waste as non-genetics professionals often order the wrong test.
Genome Medical exists to solve these problems.
We are the first and only nationwide medical practice
focused on genomics. We deliver our services via
telehealth and work with health systems, providers,
employers and health plans to meet the ever-growing
needs for our services.
What is the “Understand Your Genome?”
The Understand Your Genome (UYG) programme was started by Illumina in 2012 and is being continued by Genome Medical with the goal of advancing awareness and access to personal genomic medicine. More than 2,000 pioneers have received whole genome sequencing through the programme and more than 40 symposia have been held across seven countries.
The UYG programme enables individuals to not
only learn about the latest advancements in the
field of genomic medicine but also gain access to
a diverse set of genomic services, including whole
genome sequencing, for improved health through
more personalised treatment plans. We are seeing
a strong response to the UYG programme, including
from prior participants who wish to receive clinical
expertise from Genome Medical. More information is
available at understandyourgenome.com.
Do you think there is a danger of genomics/ PM
becoming exclusive or do you see evidence of it
being used in public health settings?
I strongly believe in a future where genomic medicine
will be a part of routine medical care for all. Genomic
medicine is being applied in clinical care today for
cancer, cardiovascular disease, paediatric genetics and
reproductive health. This is helping us to better understand
disease risk and can be used for faster diagnosis
and a more informed selection of therapeutics.
You can imagine there was a day where we were
not able to draw and analyse blood to inform patient
care even though, today, it is fundamental to the practice
of medicine. Similarly, I believe we will look back
on medical practice today and ask ourselves, how did
we diagnose disease and select therapies without the
benefit of looking at the molecular make-up of the
individual? This is important information to inform
The challenge today is that there is a large divide
between the community setting and leading academic
centres in terms of access to genomic medicine.
Genome Medical seeks to bridge this divide. We are
the front door to genomics for patients everywhere
and we support providers to appropriately utilise
genomic medicine for the benefit of their patients.
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Today, we service patients in all 50 states and offer
next day appointments. We will soon be expanding
access to our clinical experts for health systems and
providers outside of the United States.
How do you see the scalability of genomics/PM?
Clinical utility for genomics is vastly outpacing clinical
expertise. Many providers are ill equipped to meet
the demand, in turn preventing the integration of
genomics into the practice of medicine.
Most leading academic medical centres have a
genetics department with one to two geneticists and
three to four genetic counselors on staff. Community
hospitals typically have zero geneticists on staff and
few (only 17%) have a genetic counselor.
So, there remains a huge gap between the appropriate
utilisation of genetics in the clinical setting,
and the number of experts who can select, interpret
and guide providers and their patients on how to use
these tests and their results effectively.
This prompts a massive issue of scale, and one
that Genome Medical is uniquely suited to solve
with our virtual telehealth and genomic care delivery
platform. We provide services for hospitals, health
systems, employers and consumers in all 50 states.
We can deliver on-demand access to genetic experts
for virtual visits and provider-to-provider consults, in
addition to educational and training services such as
patient risk assessment tools and consumer e-learning
When do you see genomics being a part of daily
The demonstrated clinical utility for genomics is rapidly
expanding. I expect that within three to five years,
every cancer patient will receive genetic services and
genetic testing at diagnosis. We can see progress
towards this goal. For example, the American Society
of Breast Surgeons is now recommending that all
breast cancer patients receive genetic testing. This
updates guidelines that otherwise cut that recommended
population in half
This is great news for patients – genetic services
and appropriate genetic testing can help with selecting
better, more targeted treatments and ensuring
patients comply with routine screenings. On the downside,
it also presents a major issue of scale. Right now,
it’s estimated that roughly one in 100,000 people
has access to a genetic counsellor. Genetic specialists
are critical in guiding patients and doctors (PCPs,
oncologists and other specialists) on which patients
would benefit, what test to order, and what to do with
How can genomics impact favourably on the
bottom line aim in healthcare, ie, better outcomes
at lower costs?
As a whole, a personalised approach to medicine will almost always lead to better outcomes at a lower cost. Here are several examples of that:
- Broad carrier screening prior to conception
can improve likelihood of having a healthy
child. Approximately one out of every 50 children
born has a complication resulting from
genetics. It can cost $1 million annually to treat
a child with a genetic disorder.
- Using a patient’s genetic information to select
the appropriate therapy faster improves efficacy
and reduces adverse drug response.
- Identifying an individual at high risk for cancer provides the opportunity to alter clinical care for more active surveillance and early detection. For example, it is more cost effective to provide a colonoscopy to a high-risk colorectal cancer patient, detect and remove a polyp, rather than later treating advanced stage colon cancer.
- Utilising somatic cancer testing can help
inform appropriate care for cancer patients.
For example, the majority of breast cancer
patients may not respond to chemotherapy.
With accurate genomic information readily
available, providers and their patients can
assess whether chemotherapy, which has well-known
side effects, is likely to have efficacy,
and make more informed treatment decisions.