|
By Ashley Brenton, PhD
Have you ever noticed that people feel pain differently? One person stubs a toe and has to stay home from work for a week, whereas another person gets kicked by a horse, stands up and walks off. It turns out one reason for this is individual differences in our genes. Additionally, how people respond to pain medications is also affected by differences in our genes. This makes pain an obvious focus for precision medicine. There are over 100 million Americans suffering from chronic pain, according to National Academy of Medicine (formerly the Institute of Medicine). Chronic pain is a major burden on the healthcare system, patients, and caretakers. Costs associated with chronic pain exceed $635 billion annually. By Ashley Brenton, PhD
The Million Veterans Program (MVP) is an exciting precision medicine project initiated by the White House in 2011. The goal is to build a huge genomic database with the genome sequences of 1 million American veterans that can be used by researchers to study many diseases, including cancer, heart disease and diabetes. Precision medicine focuses on using information unique to each patient, such as environmental factors and genetic variability, to understand disease, response to medications, and other health issues By Ashley Brenton, PhD
Autism Spectrum Disorder (ASD) is an excellent target for precision medicine. Genomic studies have shed light on a number of genes that are associated with ASD. Furthermore, novel precision medicine treatments, based on genetics, are currently in development. According to the National Institute of Mental Health, Autism Spectrum Disorder (ASD) includes a cluster of developmental disorders that may present as difficulty with interpersonal relationships and social interactions, as well as repetitive behaviors. As Autism is a spectrum disorder, there is great variation in the behaviors of individuals with autism. ASD is a common disorder, with 1 in 68 children affected, according to the Centers for Disease Control (CDC)* 1 . By Ashley Brenton, PhD
The foundation of Precision Medicine is to use an individual’s unique genetics to predict their risk for developing disease. In particular, individual genetic variants are increasingly implicated in the risk for various cancers. The most famous of these, and first discovered, were the BRCA1 and BRCA2 variants for breast cancer. A present, there are hundreds of such risk variants known for a variant of cancers. This growing knowledge contributes to the realization of Precision Medicine. By Ashley Brenton, PhD
One of the cornerstones of Precision Medicine is the concept of selecting a therapy based on the precise genetics of the patient. This is referred to as targeted therapy. In the case of cancer, this extends to looking at the genetic mutational profile of the tumor as well, and selecting cancer drugs that target the cancer at the genetic level of detail. In May, the FDA approved the targeted cancer drug Keytruda (pembrolizumab), which is the first time approval has been granted for a medication that targets a specific genetic feature of the cancer, as opposed to a drug that targets a tumor in a specific body part. When describing cancer, it’s common to hear that one has breast cancer or prostate cancer or liver cancer; it’s not as common to hear that one has a microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) tumor. Yet this detailed molecular knowledge can be more relevant for treatment. MSI-H and dMMR are biomarkers that indicate the cancer is highly genetically mutated. Keytruda unleashes the power of the immune system to fight highly mutated cancers by blocking a key process that normally limits the immune system in attacking one’s own cells (activation of the PD-1/PD-L1 cellular pathway). |
AppendixJanuary 30, 2018
Opportunities in Precision Medicine: Pain August 29, 2017 Million Veterans Program August 24, 2017 Opportunities in Precision Medicine: Autism Spectrum Disorder August 4, 2017 Newly Identified Genetic Loci Associated with Risk of Testicular Cancer August 1, 2017 FDA Approves Keytruda - New evidence for a shifting acceptance of precision medicine Author
Dr. Ashley Brenton is a precision medicine veteran. A classically trained molecular biologist, Dr.
Brenton’s career has focused on applying genomics to public health issues and she has a proven track record in building scientific evidence for precision medicine, as well as bringing successful precision medicine tests to commercialization. Dr. Brenton began her career at Johns Hopkins and her background in public health and genomics led her to Soteria, where she strives to help patients and their families navigate the often-complicated world of medicine through clear communication and an expert understanding of cutting-edge medical testing. Categories |
LATEST NEWS
|
CISION PR NEWSWIRE: SOTERIA Precision Medicine Advisory, Inc. and CureMatch, Inc. have entered into an agreement to facilitate the delivery of Personalized Combination Therapy® options to the global cancer care community. SOTERIA, the premier concierge precision medicine advisory company, provides client guidance related to individualized tumor profiling services. In turn, CureMatch evaluates a patient's sequencing data and prior drug history to rank the top mono-therapies, two-drug combinations...Click to view the full article
|
|
SD VOYAGER: Meet Julia Civardi of Soteria Precision Medicine Advisory in Banker's Hill
Today we’d like to introduce you to Julia Civardi. Julia, can you briefly walk us through your story – how you started and how you got to where you are today. My career in healthcare began after undergoing treatment for Lymphoma in 2007 ... Click to view the full article |
© 2017 Soteria LLC | La Jolla, California 92037