Personalized medicine presentation

What is personalized medicine

FDA definition
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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
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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
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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
like Alzheimers 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.
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
[13]

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 article Pharmacogenomics: 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, Tamoxifen used 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 their CYP2D6 gene, a gene that encodes the metabolizing enzyme, were not able to
efficiently break down Tamoxifen, making it an ineffective treatment for their cancer.
Since then, women are now genotyped for those specific mutations, so that immediately these women can
have the most effective treatment therapy.
[16]

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) and Fluorescence 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