Personalized medicine presentation

Personalized medicine presentation What is personalized medicine FDA definition

is often described as providing the right patient with the right drug, at the right dose at the right time thought of tailoring medical treatment to the individual characteristics, needs, and preferences of a patient during all stages of care, including prevention, diagnosis, treatment and follow up

the use of genetic information has played major role in certain aspects of personalized medicine (pharmacogenomics),

idea originated in the context of genetics, but now broadened to encompass all sorts of personalized measures

Background

every person has a unique variation of the human genome

most of the variations between individuals has no effect on health,

individual health stems from genetic variations with behaviors and influences from environment

one way that biological variations among ppl made itself clear; responsiveness to drugs

modern advances in personalized medicine rely on tech that confirms patients essential biology-DNA, RNA, protein

for example, personalized medicine tech like genome sequencing can reveal mutations in DNA that influence diseases ranging from cystic fibrosis to cancer

Method

in order for physician to know if mutation is connected to certain disease, researchers do study called Genome wide association study (GWAS)

the study will look at one disease, and then sequence genome of many patients with particular disease to look for shared mutations in genome

study will look at one disease and sequence genome of many patients with that particular disease to look for shared mutations in genome

mutations that are determined to be related to a disease by GWAS study can then be used to diagnoses that disease in future patients by looking in their genome to find same mutation

first test was done in 2005, with age related macular degeneration, found 2 different mutations, each containing only a variation in one nucleotide

multiple genes collectively influence likelihood of developing many common and complex diseases

personalized medicine can be used to predict a persons risks for a particular disease based on one or even several gens

this approach uses the same sequencings tech, to focus on evaluation of disease risk, allowing the physician to intiatie preventive treatement before disease presents itself to patient

ex-if DNA mutation discovered that increases chance of type 2 diabetes, person can alter lifestyle that will lessen chances of getting diabetes

APPLICATIONS

advances in personalized medicine will create more unified treatment approach specific to the individual and their genome, may provide better diagnoses with earlier intervention, and more efficient drug development and therapies

will allow for more accurate diagnois and specific treatment plan

genotyping is process of obtaining individual DNA sequence by using biological assays A detailed account of person DNA sequence their genome can be compared to reference genomes like the human genome project, to assess exisiting genetic variations, that can account for possible diseases

Companies such as 23andMe, Navigenics and illumine have created direct to consumer genome sequencing accessible to public

Genetic makeup also plays large role in how well they respond to certain treatment, and knowing their genetic content can change the kind of treatment they receive

This is where Pharmacogenomics comes in

Often druges are prescribed with the idea that it will work relatively the same for everyone, but in applications of drugs, there a number of factors that need to be considered Detailed account of genetic information from individual will prevent affects, allow for proper dosage and create maximum efficacy for drug prescriptions

The pharmacogenomic process for discovery of genetic variants that predict adverse events to a specific drug has termed toxgnostics

Personalized medicine can help with preventive care

Women are already being genotyped of certain mutations in BRCA 1/ 2 gene, if they are predisposed to becuz of a family history of breast cancer or ovarian cancer

As more causes of diseases are mapped out according to mutations that exist within a genome, the easier they can be identified in an individual. Measures can then be taken to prevent a disease from developing. Even if mutations were found within a genome, having the details of their DNA can reduce the impact or delay the onset of certain diseases. Having the genetic content of an individual will allow better guided decisions in determining the source of the disease and thus treating it or preventing its progression. This will be extremely useful for diseases likeAlzheimers or cancers that are thought to be linked to certain mutations in our DNA.Drug Developmment and Usage

-having a persons genomic info can be significant in process of developing drugs as they await approval from FDA for public use

-will also be an asset to decide whether or not patient will be chosen to be included in final stages in clinical trials

-Being able to identify patients who will benefit most from a clinical trial will increase the safety of patients from adverse outcomes caused by the product in testing, and will allow smaller and faster trials that lead to lower overall costs.

[13]In addition, drugs that are deemed ineffective for the larger population can gain approval by the FDA by using personal genomes to qualify the effectiveness and need for that specific drug or therapy even though it may only be needed by a small percentage of the population

common that physicians often use a trial and error strategy until they find the treatment therapy that is most effective for their patient.[7]

With personalized medicine, these treatments can be more specifically tailored to an individual and give insight into how their body will respond to the drug and if that drug will work based on their genome

.[2]The personal genotype can allow physicians to have more detailed information that will guide them in their decision in treatment prescriptions, which will be more cost-effective and accurate.[7]

As quoted from the articlePharmacogenomics: The Promise of Personalized Medicine, therapy with the right drug at the right dose in the right patient is a description of how personalized medicine will affect the future of treatment.[15]For instance,Tamoxifenused to be a drug commonly prescribed to women with ER+ breast cancer, but 65% of women initially taking it developed resistance. After some research, it was discovered that women with certain mutation in theirCYP2D6gene, a gene that encodes the metabolizing enzyme, were not able to efficiently break down Tamoxifen, making it an ineffective treatment for their cancer.

[16]Since then, women are now genotyped for those specific mutations, so that immediately these women can have the most effective treatment therapy.

CANCER GENOMICS -cancer research has discovered great deal about genetic variety of type of cancers that appear in usual pathology

-increasing awareness of genetic diversity within single tumour

-raise the possibility that drugs that did not give good results if attributed to the public, works effectively if given to a specific group of ppl -oncogenomics is the application of personalized medicine to cancer research and treatment

-one of the most promising areas, due to drug implication Example- TRASTUZUMAB- monoclonal antibody drug interferes with the HER2/ neu receptor- main use to treat breat cancer

drug is only used if patients cancer is tested for overexpression of the HER2 receptor

-Two tissue-typing tests are used to screen patients for possible benefit from Herceptin treatment. The tissue tests areimmunohistochemistry(IHC) andFluorescence In Situ Hybridization(FISH)[17]Only Her2+ patients will be treated with Herceptin therapy (trastuzumab)

RISKS AND CHALLENGES

-approaches to intellectual property rights, reimbursement policies, patient privacy and confidentiality as well as regulatory oversight will need to be redefined to accomadate personalized medicine

Regulatory Oversight-FDA