The last decades have seen significant progress when it comes to medical care for rare diseases. Tasks doctors once slaved over were transformed with better speed and efficiency by modern technological discoveries. In RD World, they report that the first genome sequencing took 13 years; today it takes just 24 hours. The Pistoia Alliance has just created a new report, titled “2030 – Life Sciences And Health Go Digital” which discusses their expectations and predictions of the evolution of technology for medical science by 2030 and what that will look like for many diseases. For rare disease patients, the uptake in individualized treatments is notable. These are therapies tailored to the person’s genes or disease rather than a standardized medication.
While COVID-19 has seized the attention of much of the medical research world, long term goals still will focus on these chronic health care needs. They believe that patient care can expect ‘meaningful improvement’ in genomics, gene therapy, stem cell therapy, and oncology. These treatments are malleable to the patient’s specific needs.
Understandings in genetics have come to tipping point with technology that can now give an inside look into the individual’s DNA. These therapies are still within their first decade of use. In 2012, the first published research was met with an extreme reaction; the tool CRISPR was fast, cheap, and incredibly innovative. They could dive right into the building blocks of the genetic makeup, cutting into the specific DNA mutation and repairing or turning off the gene causing issues. There have since been gene therapy approvals by the FDA and the NHS in the UK. In 2017, the gene therapy Strimvelis was approved to treat adenosine deaminase deficiency. There’s been others to treat spinal muscular atrophy and a type of Parkinson’s disease. They expect this paired with big data will come together to create more such therapies in the coming decades, initially mostly for liver and retinal disorders.
Genomics, which maps the DNA and molecular makeup, has led to genetic insights that contribute to treatment options for polygenic diseases, which are caused by multiple genetic mutations. Since genetic treatments are direct to the roots of the individuals specific needs, rare disease patients can finally expect some cures.
Stem Cell Therapy
Stem cell therapy refers to a process of treatment using stem cells to replace or repair dysfunctional tissue. The researchers grow stem cells so patients can avoid organ transplants, which are not only hard to get but cause another set of medical issues. This means they grow the cells into the specialized need, whether it be for faulty blood or nerve cells, and then implant them into the patient. Since its innovation in the late 2010s, there have been tens of thousands of successful transplants to treat blood cancer and skin grafts treating burn victims. They also have been tapped to grow organoids, in vitro tissue models which act as organs for research. This takes away the need for test subjects and can be tailored to what they want to study, not only making for more ethical studies but more precise ones too. They expect this is only the beginning- the methodology is ripe for evolving into more regenerative and individualized medicines to meet many different medical needs.
Research for oncology, the study of cancers, has already been digging into the ever-growing data bases to analyze genetic issues and diagnosis for cancers. The current treatment options will be enhanced by new methods like immunotherapies and liquid biopsy analysis. These allow the researchers to get a closer look at the cancer’s molecular profile, allowing for more rapid detection and treatment which improves the treatment’s effectiveness. They have already gotten to late stages in studying how molecules that kill proteins could help with cancer treatment, with high expectations of where this will go in the next decade.
For these technologies to advance, there must be funding. Pistoia Alliance’s report says this means the funding structures must develop too so that they better align with models for individualized medication, rather than the traditional standardized creation and pricing. They suggest a “payment for outcomes” approach, rather than the costly “pay per pill” method which is unaffordable for too many patients.