Genomic medicine is revolutionizing healthcare and the national economy, but there remain barriers which must be overcome.
Scientists are working diligently on creating medicines that target regulatory regions of the genome and control gene expression through AAV and CRISPR gene editing systems, including vaccines and nucleic acid therapeutics derived from microRNA (miRNA) vaccines as well as AAV and CRISPR gene editing technologies.
Real-Time Diagnosis
Real time RT-PCR has become one of the most widely utilized laboratory techniques for rapidly detecting infectious diseases that spread quickly, such as Ebola, Zika and MERS viruses. Furthermore, this technique can detect major zoonotic diseases which infect animals that then can infiltrate human bodies.
Researchers can use real-time virtual histopathology and deep learning together to achieve real-time diagnosis with high accuracy in real time, particularly for point-of-procedure clinical applications such as intraoperative assessment of tumor tissue during surgical oncology procedures.
WGS technology is becoming steadily less costly and faster, potentially offering clinical data within days rather than years. Unfortunately, bottlenecks in drug development could prevent this technology from being widely adopted.
Science can use viral genome sequence analysis to monitor the evolution of pathogens over time. For instance, an analysis of SARS-CoV-2 samples taken from households demonstrated an increase in genetic diversity over time – this suggests the virus may alter its genetic makeup to avoid recognition by immune systems; but to determine whether these mutations are beneficial or harmful requires a thorough understanding of transmission mechanisms as well as which genes contribute mutations to transmission processes.
Targeted Therapies
When gene mutations are identified in cancer patients, doctors can use targeted therapy to administer medicine that targets the abnormal protein to stop it from making tumors grow or spread – this approach has proven more successful than other approaches for many types of cancer treatment. Many of these medications are tyrosine kinase inhibitors, which work by blocking specific proteins that contribute to cancer cell growth. Examples include medications targeting melanoma, thyroid and colorectal cancer; others target leukemia lung and kidney cancer; still other targeted cancer medications work regardless of where a tumor originates – for instance the drug Ponatinib targets genes often altered in lung tumors like BRAF/NTRK genes which is an example of one such targeted cancer medication working without regard to where an original tumor might have originated from; other targeted cancer drugs work similarly or are tumor agnostic; for instance it targets BRAF/NTRK genes which often are altered in lung tumors which provides great potential benefits regardless of where an initial tumor comes from; some other targeted cancer medicines work “tumor-agnostically”, working regardless of where its source might come from; one such targeted cancer medicine that works without regard as to where its source comes from; this drug known as Ponatinib targets BRAF and NTRK genes found mutated frequently present as well as being effective overall treatments; one such targeted cancer medicine works regardless of its source such as Ponatinib targets BRAF and NTRK genes commonly found mutated within lung cancerous tumor comes from; some work even “tumor-agnosic,” targeting BRAF and NTRK genes often present; some work regardless.
Gene therapies are complex medicines that deliver genetic material directly into a patient’s cells. Gene therapies have the ability to treat genetic conditions like hemophilia A or B, spinal muscular atrophy, and some cancers; though more complex in production than traditional cancer therapies and require longer clinical visits they can provide complete cures for any illness or disease.
Some gene therapies have already been approved, including Luxturna for congenital blindness and Zolgensma for spinal muscular atrophy. Meanwhile, other companies are working on more widespread conditions like Parkinson’s and Alzheimer’s that might benefit from gene therapies.
Genomic medicines are expensive. To keep costs affordable, companies must find ways to overcome challenges associated with manufacturing, regulation and pricing. An IGI Task Force was formed to address these hurdles by convening experts from drug manufacturing, intellectual property licensing agreements, organization funding models and pricing/access strategies.
The IGI Task Force has developed a roadmap to create genomic medicines at affordable prices that people can afford, providing us with new hope in treating rare and non-rare diseases such as cancer and Alzheimer’s. This achievement marks an incredible step toward the future of medicine; many patients will receive these new drugs through clinical trials led by doctors at MSK or other institutions around the globe.
Population-Based Studies
Genomic medicine may seem futuristic, but it’s already making waves in health care. Genome sequencing has already revolutionized rare-disease care. By helping more patients to be diagnosed and treated, genomic sequencing has dramatically expanded access to care; though some will continue bouncing from doctor to doctor and procedure to procedure without getting an answer; genome sequencing brings vast majority of cases within reach for diagnosis; when combined with an array of clinical trials matching genetic biomarkers with targeted therapies, genomics will have a major impactful on treatment outcomes.
However, gene therapy products approved to treat common progressive diseases like hemophilia A and B were initially designed to target specific genetic mutations and proteins they encode. Genome-wide association studies have since demonstrated that most disease-associated variations occur within gene regulatory regions – meaning controlling when and how those genes are expressed may provide more powerful treatment approaches.
Population-based studies, which involve collecting de-identified data from large groups of individuals over an extended period, are essential in the evaluation of new treatments. Unfortunately, however, their collection, linkage and dissemination can be complex and costly; to ensure success of cohort-like initiatives it is crucial that legislation regarding health data access, exchange and disclosure be revised thoroughly and reviewed thoroughly.
Grail Project, for instance, is a population-based initiative with the aim of helping health systems offer cancer patients genomic testing as part of standard of care. Patients enrolled in the trial will undergo testing for 358 genes considered clinically actionable; those found with genetic mutations linked to specific forms of cancer will also receive information regarding available therapies or clinical trials that address them.
Our estimates of market penetration of innovations rely on benchmarks of best-selling innovative therapies in each of three categories — rare, non-rare/non-oncology and oncology indications. Furthermore, we consider ease of delivery by taking into account whether technology involves gene therapy, regulatory oligonucleotides or genome editing technologies and whether products are distributed through cell or gene vector delivery mechanisms.
Pricing
The next big wave of genomic medicine could bring revolution to diagnostics and targeted therapies; it will also transform pricing. Employers and health plans are already wary about the costs of expensive new genetic therapies approved for rare diseases; one such liposome-delivered gene therapy from Novartis AG for fatal muscle-wasting disease costs $2.1 million for one treatment session while one from Spark Therapeutics Inc for hereditary blindness costs $425,000 per eye.
Cost of genetic therapy will depend upon its chosen technology (gene therapy, regulatory oligonucleotides or genome editing), disease type and market penetration; which will be measured against benchmark products in rare, non-rare/non-oncology and oncology indications recently launched by innovative manufacturers.
Attracting significant interest are companies offering to analyze genome-wide association study data and aid doctors in selecting drugs tailored specifically to each patient’s genotype. A firm such as Wave Life Sciences recently received a boost when GSK signed a four-year agreement with it to jointly develop genetic medicines.
Intervention Insights uses software developed by Van Andel Research Institute to assist oncologists in selecting therapeutics with high therapeutic promise for their patients, while Foundation Medicine analyzes cancer tumors and connects them with available therapies.
Other companies are focused on prevention, using genetics to predict which drugs will work for each individual and to avoid prescribing those that won’t. Pre-implantation testing and carrier screening will become routine practices while pharmacogenomics could make commonplace drugs (like aspirin which increases heart attack risk in some) safer and more effective ( such as aspirin can increase heart attack risk for some).
Genomic science will continue to make strides forward, including advances in structural genomics that should enable creation of protein structures similar to those found in nature. That could spark another debate over whether and how genomic information should be released publicly – with some players from both camps likely taking sides in that debate.
