Genomics can transform medicine only if it is made accessible

Genomics can transform medicine

Genomics can help with prevalent diseases

Genomics has been moving swiftly to the forefront of scientific medicine. It is a potentially limitless technology that can transform healthcare by being more targeted, personalized, and proactive. It not only helps with preventive care but also determines treatment options for chronic ailments which include heart diseases. Medicine has become an essential factor in reproductive health counseling and in screening for infertility and newborn genetic disorders. It is proving to be instrumental in the development of advanced therapeutics for diseases. This includes cancer and even the treatment for global outbreaks like covid-19.

But until this date, there is only one huge problem with genomic medicine: accessibility. Lisa Alderson is the CEO of Genome Medical. She explains that even though there is a technological advancement, there are a huge majority of patients still don’t have any access to genomics even when it can prove to be medically advantageous. This is mostly because of insurance barriers, a lack of clinical understanding, and the sheer volume and complexity of new tests launched in the market.

It is her company’s mission to change the dynamic by introducing genome-enabled healthcare for everyone through the company’s extensive network of genetic specialists and the technology platform that delivers “genomics as a service.”

Genomics for all the patients:

Alderson pointed out that virtually everybody can derive benefit from being able to access genetic insights. Genetics offer the promise of correctly executed therapy to the right patient at the right time. It can also reveal hidden and new information to better inform the clinical care. As the field of genomics advances, its ability to detect and treat diseases like cancer will hugely improve. As a result of this, technology becomes increasingly important not only for individuals with their genetic conditions but for everyone – from their birth to their old age. 

Traditionally, for instance, only one or two genes were used to test for hereditary breast cancer or ovarian cancer. But because of the evolution of science, we know that 11 genes can help the detection of hereditary breast and ovarian cancer. In fact, according to Alderson, there are about a hundred genes that can expose us to the risk of cancer. Therefore as genetic testing becomes precise and accurate it has the potential to exponentially save more lives.

A SaaS platform for increased access:

A way to help genomics reach its entire potential is by the provision of clinical support tools to non-genetic professionals. This will enable them to understand which patients would benefit from both tests and all about the interpretation and uses of the resulting information to guide clinical care. One concern here is that most local health care systems don’t have full-time metabolic geneticists in their staff. As a consequence, they end up referring their patients to leading academic centers where the bulk of genomics healthcare is carried out. This implies that local health systems could lose the patients for the full continuum of their care.

To address this issue, Genome Medical’s “genomics as a service” SaaS platform provides rapid patient education and engagement and also supports the providers with the necessary clinical tools and understanding that they require to utilize genomics. Alderson says she wants every hospital and healthcare system to be able to access genomics in its community setting.

Genetic testing for medical professionals:

Alderson is heartened by the fact that genetic testing is expanding beyond its origin in prenatal medicine and ontology to fresh areas like cardiology, endocrinology, nephrology, and urology. Traditionally most neurologists did not have strong use cases to order genetic testing. But today genetic testing is recommended for every metastatic prostate cancer patient. Eventually, genomics will reach all the medical professionals which may include pediatricians, oncologists, cardiologists, neurologists, urologists, and the list goes on.

“We’re sitting at the precipice of what is a huge inflection point in the use of genetics and genomics,” says Alderson. “It will have a profound impact on human health, not just for prevention but also to get a deeper understanding of what is causing the disease — and thus a richer opportunity to improve how we treat disease. We’re getting to the root cause rather than just observing symptoms and then trying to treat those symptoms.”

Moral and ethical concerns:

It is important to mention that genomics does not work without controversy. The new capabilities have given rise to a debate about how they should be put to use. For instance, can genetic information be accessed by insurance companies to discriminate against people with risk factors for certain disorders?

The use of genetic testing to determine whether you are having a healthy child or one with the disorders. Then arises the issue of gene editing and offering scientists the ability to alter the DNA of various organisms. These areas of development are fraught with significant moral and ethical issues.

“What’s powerful about the technology is it can cure disease,” says Alderson. “What is scary about the technology is, do we understand the full downstream effects in editing the genome? We don’t know everything about the genome and its role and implications in human health. So there is a lot of complexity here.”

A vital tool in the battle against viruses:

The situation is also hopeful after all. Genomics recently played a very significant role in the development of the covid-19 vaccine within a record period. The vaccines wouldn’t be here without genomics and its power to sequence the virus rapidly with accuracy.

Alderson says that genomics help scientists understand the virus and give them the ability to develop the vaccines in less than one year. She believes that the use of genomics in immunology will accelerate the advancement of treatment options in various disease areas. Also, it will enable you to address emerging new viruses.

“Genomics is one of the most exciting advancements in our lifetime in health care,” Alderson concludes. “I couldn’t be more excited about how far we’ve come over the last couple of decades — but also for what lies ahead.”

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