Solving one of the world's biggest health problems with technology
Color's innovative health service can identify serious hereditary conditions such as cancer and high cholesterol, as well as giving patients a better idea of their chances of falling ill in the future. Prevention and early detection would create huge savings for healthcare services around the world, as well as the clear benefits to people's lives. As Othman Laraki, Co-founder and CEO of Color explains: "There is no incentive for people to not get genetic counselling."
The tests currently analyse 30 different genes associated with eight common types of hereditary cancer as well as cardiovascular risk. Patients order the testing kits online, provide a blood or saliva sample, and within a couple of weeks the results are emailed back to both them and their doctors. After this, they can discuss the results with Color's genetic counsellors and move on to the next steps. With all the initial consultations done online, this is a low overhead process saving doctors valuable time.
The technology it employs is extremely precise, and is one that is being used in clinical labs around the world including the UK’s NHS. When a gene mutation is found it is sequenced for a second time to ensure accuracy. "We've literally never had one where the first one proved to be wrong," Laraki says.
Color constantly updates its model when new genes are discovered, and when there is a medical consensus to confirm these can lead to serious health problems. Recently it launched Color Prime for people to keep up to date with these latest discoveries. Laraki explains how valuable this is, "because if you go and get tested pretty much anywhere in the world you will get today's version, but if a new gene gets added to the list you won’t get tested for that by default, and you might be a carrier for that permutation. That's something we're unique in doing."
Laraki explains that the benefits of genetic testing to patients can roughly be divided into three categories: prevention, early detection, and treatment.
On the prevention side there are lifestyle choices; being overweight and excessive alcohol consumption are traditionally associated with a higher cancer risk, which is exacerbated in people who are mutation carriers. Medication can also have an impact, for instance studies have shown that a daily dose of aspirin can substantially reduce the likelihood of developing colon cancer. Then there is surgery, a drastic choice - such as the headline-grabbing story of Angelina Jolie who as a BRCA1 carrier underwent a double mastectomy and had her ovaries removed - but one that is increasingly becoming part of the recommendations by US doctors for certain high-risk patients.
In terms of early detection, "it's all about screening," according to Laraki. "One thing we're seeing is that almost independent of risk level, the genetics and the awareness you bring to people has a big effect on getting people to comply with their screening guidelines." He explains that for men in their 50s, only 30% will get screened, however, if they're aware they are Lynch syndrome carriers for example, which increases the risk of stomach cancer, this figure rises to 90%.
The third part is treatment. "If someone has a mutation it has a big effect on how they are treated,” says Laraki. “We just announced a study we're doing with Fred Hutchinson University in Washington, where we're testing all metastatic prostate cancer patients in the entire state, because if you have prostate cancer and you have a BRCA2 mutation the type of therapy you should be getting is different, and that has a big impact on outcomes."
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Getting access to genetic information has traditionally been very expensive, however, since Color launched its BRCA1 and BRCA2 tests for $100 in October 2017 they've proven to be very popular. Over time the company is planning to expand testing to other forms of cancer as well as other health areas.
The big motivator, as Laraki explains, is to focus on prevention and early detection. "If you look at our healthcare spend, in the US especially but it's very similar across the world, most of it is on treating disease. The basic model is that we wait for something to break and then we try to fix it. In the US only 3% of healthcare spend is on prevention. Just moving the cancer diagnosis up a stage, from four to three, three to two and so on, you double the survival rate and take out 50% of the cost.
"That's a bigger impact than any cancer therapy that's ever been invested in its history. It's achievable through prevention and early detection.
"There's a massive shortage of genetic counsellors globally," he continues, "so we built a lot of tools that enable our counsellors to spend the vast majority of their time talking with patients and doctors. We've seen a significant increase in of doctors who are not cancer or cardiovascular disease specialists starting to adopt genetic testing as part of general prevention."
This is beneficial to patients, but also helps to educate OB-GYNs and general practitioners who may never had to counsel someone on genetic mutations before.
The plan is to roll the scheme out worldwide, but the challenge is to get local doctors fully trained in genetic counselling. "[In the] UK there's already a lot of genetic counselling availability, but there are definitely countries where there's a lot to do, where there's zero local genetic counselling. That's going be an important aspect of our growth, in terms of how we bridge that gap for different geographies.”
Laraki believes that the UK is likely to become one of the world leaders in doing this population level prevention, where he says "there's definitely a lot of forward thinking.”
"I do think it is literally the highest ROI investment that is available in healthcare, for both wealthy countries like the UK and the US, as well as developing countries," Laraki says. "If you look at a country like Nigeria, 180mn people have 40 oncologists, that's less oncologists than in London. There needs to be a big investment on the treatment side, but I think there might be an interesting effect where similarly to how a lot of developing countries leapfrogged from landlines directly to cellphones, I wonder whether we might see something similar on the prevention side.
"For every late stage cancer, you prevent, you can provide genetics and early detection for 1,000 people from the beginning. It's going be interesting to see the broad adoption in countries like the UK and the US. I think in the next few years there'll be true population level precision prevention, but it might also happen in developing countries in a similar time frame."
Skin Analytics wins NHSX award for AI skin cancer tool
An artificial intelligence-driven tool that identifies skin cancers has received an award from NHSX, the NHS England and Department of Health and Social Care's initiative to bring technology into the UK's national health system.
NHSX has granted the Artificial Intelligence in Health and Care Award to DERM, an AI solution that can identify 11 types of skin lesion.
Developed by Skin Analytics, DERM analyses images of skin lesions using algorithms. Within primary care, Skin Analytics will be used as an additional tool to help doctors with their decision making.
In secondary care, it enables AI telehealth hubs to support dermatologists with triage, directing patients to the right next step. This will help speed up diagnosis, and patients with benign skin lesions can be identified earlier, redirecting them away from dermatology departments that are at full capacity due to the COVID-19 backlog.
Cancer Research has called the impact of the pandemic on cancer services "devastating", with a 42% drop in the number of people starting cancer treatment after screening.
DERM is already in use at University Hospitals Birmingham and Mid and South Essex Health & Care Partnership, where it has led to a significant reduction in unnecessary referrals to hospital.
Now NHSX have granted it the Phase 4 AI in Health and Care Award, making DERM available to clinicians across the country. Overall this award makes £140 million available over four years to accelerate the use of artificial intelligence technologies which meet the aims of the NHS Long Term Plan.
Dr Lucy Thomas, Consultant Dermatologist at Chelsea & Westminster Hospital, said: “Skin Analytics’ receipt of this award is great news for the NHS and dermatology departments. It will allow us to gather real-world data to demonstrate the benefits of AI on patient pathways and workforce challenges.
"Like many services, dermatology has severe backlogs due to the COVID-19 pandemic. This award couldn't have come at a better time to aid recovery and give us more time with the patients most in need of our help.”