A new generation of genomic medicines promises to revolutionize healthcare. These include gene therapies for genetic diseases like spinal muscular atrophy 1 and cancer treatments that utilize messenger RNA vaccines like Moderna and CureVac.
But their high cost may present an impediment to treatment; thus requiring steps be taken to make these therapies more cost-effective.
The promise of personalised medicine
Genomes are complex interwoven ladders of molecules found within every cell that hold instructions for how our bodies should function, with DNA sequences providing individual differences such as eye color or susceptibility to disease. Scientists use this information to tailor medicines that match a patient’s genetic makeup – known as personalized medicine.
In theory, personalized medicine should be more effective and have fewer side effects because it is tailored specifically for one individual patient. Unfortunately, however, an apparent mismatch has emerged between its rhetoric and reality in research studies and clinical trials; raising several important historical, philosophical, and sociological considerations.
Genomic sequencing has become more affordable, and doctors can now test patients’ DNA for mutations associated with diseases like cancer – known as “pharmacogenetics”. The goal is to identify which patients would most benefit from taking a drug so it can be tailored specifically towards their unique genetic makeup and metabolism.
Other genomic-based tests use DNA to screen for predisposition to diseases like cardiovascular disease and cancer by looking at which genes influence risk. More recently, medical science has turned its focus towards “impersonalised medicines”, using “rogue genes identified in large genomic studies” (like PCSK9 and LPA1) that target biological pathways common across many people – for example increasing cholesterol with PCSK9 regulation by LPA1.
However, these tests can be prohibitively expensive; for instance, gene therapy to correct spinal muscular atrophy 1 mutations that lead to paralysis and death in toddlers could cost between $500,000 – $2m per patient and this price point makes genomic medicine unaffordable to most public health systems and private insurers – an impediment to widespread adoption that must be addressed somehow through restructuring incentives that influence research and commercial landscape.
The challenge of personalised medicine
As genomic technology develops, scientists now possess the power to tailor therapy specifically to an individual patient’s genetic and environmental factors that cause disease. Yet implementing such personalized medicine will prove challenging; it will require fundamental change to how healthcare systems develop, regulate, pay for and deliver healthcare services; replacing today’s trial-and-error model based on broad population studies with one that allows doctors to address each person’s genetics and environments that contribute to illness will become possible.
Experts recognize the difficulties inherent to personalized medicine are many, with cost being a key one. One challenge lies with cost; currently genomic sequencing and other diagnostic tests are often too costly for most patients and healthcare systems, thus necessitating development of more efficient DNA-reading technology that is faster and cheaper. Another obstacle involves training physicians on using personalized medicine effectively – with changes needed in medical education curricula to foster an individualized approach towards health care delivery.
Finally, regulatory issues must be considered. A system which balances innovation with accessibility while safeguarding patient privacy must be created; additionally, creating an infrastructure which encourages sharing of data across organizations must also be put in place.
Implementation of personalized medicine will ultimately be driven by patient demand and healthcare providers’ desires to offer more targeted and effective treatments. The advantages of personalized medicine will be enormous for both patients and healthcare industry, yet we must overcome any potential obstacles to its adoption.
Genomics is driving an unprecedented wave of innovation in oncology, drug discovery and development, risk evaluation and clinical practices (the tests and procedures patients go through when visiting their physician). While breakthroughs will take time to become tangible health care improvements for all, understanding both its challenges and opportunities is vital to shaping the future of personalized medicine and the broader revolution genomics will bring.
The promise of impersonalised medicine
Genomic medicine – which provides healthcare based on an individual’s DNA – holds immense promise to revolutionise healthcare delivery; however, many challenges still lie ahead.
Genomic medicine was birthed with the completion of the Human Genome Project in 2003. This massive scientific endeavor involved mapping all 20,500 genes present within an individual’s body and understanding their interactions.
Scientists now possess more insight than ever into how genetics impacts health, enabling them to quickly detect mutations that may be contributing to an illness in a patient and find medications which may treat those mutations.
However, development of new treatments has been slower than expected. This may be partly attributable to the sheer cost of drug development: an average 10-year project costs billions and takes 10 years from concept to market launch for just one new drug. But more significantly it could also be down to gene-based therapy being ineffective or patients failing to stick with treatment regimens.
Genomics was initially applied to healthcare to treat phenylketonuria, an inherited disorder with severe mental and physical debilitation if untreated from birth with a special low-protein diet. Genome sequencing identified its mutation, enabling doctors to diagnose babies at risk with it early and begin treatment via diet; this reduced disease incidence by 92% while improving patient outcomes significantly while cutting costs dramatically.
Genomic medicine can be applied to many genetic conditions and diseases, though its implementation in practice may face numerous barriers – cost being just one such issue – including cost and the requirement of high-quality evidence. Delivering genomic medicine requires five key players: patient, PCP, clinical genomic specialist (CGS), laboratory genomic specialist (LGS) and payer.
Genomics medicine has quickly become a mainstream part of healthcare. It has revolutionized cancer research, diagnosis, risk evaluation and drug development as well as clinical practices (the tests and procedures conducted at doctors’ offices). Despite these obstacles, genomic medicine is rapidly growing in prominence across healthcare.
The challenge of impersonalised medicine
Genomic medicine holds great promise not only for our understanding of human genetics but also in providing powerful tools for diagnosis and treatment – though it will take some time before such tools reach clinics.
Genomic science only recently began making waves in medical practice; therefore, its influence remains limited to specific specialties like oncology and, to a certain degree, primary care.
One major barrier is cost, even though NIH has made significant strides to bring DNA sequencing technology more within reach for clinicians. A second obstacle lies in evidence of improvement to patient outcomes from genomics usage – something most practicing physicians don’t fully grasp (Kaye and Korf 2013). A concerted effort must be undertaken in order to increase awareness on these important topics.
Genomic technology, however, remains here to stay despite its challenges. It has transformed how we view disease and allowed researchers to uncover new genes and pathways associated with health and disease. Soon enough, we may combine genomic-based data with nongenomic sources like environmental exposures or epigenomics data in order to create novel diagnostic and therapeutic approaches for multifactorial conditions such as multiarthritis.
Pharmacogenomics, a subfield of genomics, can assist doctors in understanding how different genetic variations will influence drug treatments for specific individuals. Pharmacogenomics can also reveal hidden causes of illness and predict how patients might respond to drugs prior to beginning them – as well as identify which medications will likely work in any particular instance.
Genomics will have an immense effect on clinical practice depending on its speed of translation from lab to clinic and whether or not it significantly improves patient outcomes. To reach its full potential, genomics must overcome cost and complexity barriers while showing its worthiness within health care services.
