Personalised Medicine

PRESENTED BY:
SREEMOYEE SENSHARMA- 16BBT0163

ANANYA SRIDHAR- 16BBT0183
TRISHA SAMSON DAVID- 16BBT0204
SWARNALI SARKAR- 16BBT0226
ARUNDHATI MITRA- 16BBT0229
REVANTI MUKHERJEE- 16BBT0230
Personalized medicine is an evolving field in
which physicians use diagnostic tests to determine
which medical treatments will work best for each
patient.
Advances in personalised medicine will create a
more unified treatment approach specific to the
individual and their genome.
Personalised medicine may provide better
diagnoses with earlier intervention, and more
efficient drug development and therapies.
The practice of medicine has now entered an era in
which the individual patient's genome will help
determine the optimal approach to care.
Genomics, which has quickly emerged as the

central basic science of biomedical research, is
poised to take center stage in clinical medicine as
well.
 Personalised medicine (PM) is a medical model that
proposes to customise medical decisions, practices, and
treatments for the individual patient.
 Personalised medicine will require the development of
targeted medicines.
 For personalised medicine to make progress, new
findings from molecular research, and new technologies
(such as ‘omics’ technologies), must be translated
(adapted) for use in medicines development and
approved therapy.
4
 An advantage of developing targeted medicines is the
increase in the efficiency of clinical trials.
 Fewer new medicines should fail at each stage of the
development process if they are targeted at a known cause
of the disease.
 The use of biomarkers will be central to personalised
medicine.
 Validation of unique and predictive biomarkers measuring
treatment outcomes will need to be in place before
medicines developed in this way can be authorised.
5
Companion diagnostics are necessary tests that select
patients before a medicine is given. They may:
 show who is likely to respond to the medicine
(‘responders’ and ‘non-responders’);
 identify patients at high risk for adverse reactions;
 and help the doctor to select an appropriate dose that is
both safe and effective.
6
 Proper design and validation of the diagnostic test is
essential to get the best outcome from the medicine and for
the patient.
 Companion diagnostics should have an ‘intended use’ or
‘indications for use’.
 Companion diagnostics may include tests directly on the
patient such as electrocardiography (ECG) or diagnostic
imaging such as MRI.
 Tests carried out on samples taken from a patient (such as
DNA tests) are generally considered by regulatory
authorities to provide the most valid evidence.
8
Companion Tests should include the following elements:
 the target population for whom the test is intended
(such as individuals with particular genotypes(genetic
make-up) or phenotypes (characteristics),
 why the measurement is being done – the ‘clinical
purpose’ such as to help with diagnosis, assessing how
the disease is likely to develop (prognosis), and
monitoring,
 what is measured, identified, or detected such as a
specific gene or protein,
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 what kind of measurement the test makes, including
whether the test is qualitative (looks at observations and
descriptions), or semi-quantitative and quantitative (looks at
numbers),
 the sample type and where it is taken from e.g. whole blood,
cerebrospinal fluid,
 the setting in which the diagnostic device is meant to be
used, for example, in a laboratory or at ‘point-of-care’ and
what type of equipment is required to perform the test,
 the target condition, a particular disease, disease stage,
health status, or other identifiable condition or event.
10
 There are particular ethical challenges for researchers
who work with genetic and genomic data.
 It is important that they consider privacy and keeping
data confidential and making sure participants in trials
understand what they are agreeing to - ‘informed
consent’.
11
 Even when medicine is targeted for a specific sub-
population of patients, it is still possible that patients
with the ‘same disease’ but in different sub-groups
might be prescribed the medicine. This could lead to:
• a lack of response to the treatment,
• a delay in the patient receiving a treatment that is better for them,
• a waste of the medicine itself,
• an adverse reaction that could have been avoided.
12
With personalised medicine, the patient with a disease
should have more reassuring information prior to
treatment, for example:
 that a medicine is likely to work well for them,
 that they are unlikely to suffer from side effects with a
particular treatment,
 where side effects are unavoidable, better knowledge
about them and how severe they might be should make
it easier for the patient to decide and plan for the
treatment and to fit it into their daily life.
13
 Are healthcare professionals skilled enough and ready
to communicate about it with their patients?
 With personalised medicine, there may exist more or
even different information about the available treatment
options for the patient and doctor to understand and
discuss.
 Patients who find this difficult will need good support
from their doctors.
14
 Patients and their doctors will need to discuss the pros
and cons when making decisions about testing.
 It may be necessary to do more tests than patients are
used to in order to make personalised medicine
possible.
 If a test predicts how likely a patient is to respond to a
medicine, the result might be expressed for example as
a ratio (1 in 3) or as a percentage (33 %). People have
different ways of interpreting risk, and doctors will need
to support them in interpretation of risks.
15
Oncology
Pharmacogenomics
Diabetes
Personalized medicine is the use of genomic
information – in addition to family history, lifestyle,
and environmental factors – to customize health
management. By combining genomic and clinical
information, more accurate predictions can be
made about a person's susceptibility of developing
disease, the course of disease, and response to
treatment.
 ‘Personalised medicine can be described as providing the
right medicine, to the right patient, at the right dose, at the
right time; in effect, it involves tailoring medical treatment
based on the individual’s biological data, needs and
preferences throughout all the stages of care, including
prevention, diagnosis and treatment.’
 Themes: Cancer, CardiometabolicScience, Infection,

Immunology & Inflammation, Rare Disease
CYP450 Genetic Testing for SSRIs
 Many drugs, including the commonly prescribed class
of antidepressants, selective serotonin reuptake
inhibitors (SSRIs), are either metabolized by CYP450
enzymes or inhibit the activity of these enzymes
 Genotyping of variants in the CYP450 genes can be
used to predict the metabolizing strength of the
cytochrome enzymes, defined as ultra-rapid, extensive,
intermediate, or poor.
 In theory, the profile of genotypic variants can be used
to determine a dosage specific to a patient more
efficiently than the traditional trial-and-error approach
 An individual’s genotypic profile also may predict
whether a particular medication interferes with the
activity of another prescribed medication.
 Hence, there has been interest in genotyping CYP450
genes as a means to better guide SSRI prescribing and
dosing.
 The review of the evidence of EGAPP (Evaluation of
Genomic Applications in Practice and Prevention) found
convincing data that SSRIs are metabolized by and inhibit
the function of CYP450 enzymes and that polymorphisms
in CYP450 enzymes are associated with the function and
strength of SSRI metabolism
 However, EGAPP found “no evidence was available
showing that the results of CYP450 testing influenced
SSRI choice or dose and improved patient outcomes”
 Despite the EGAPP conclusions, at least 15 businesses
currently offer CYP450 genotyping services
 Seryx and DNA Direct outsource the test to LabCorp
and provide only interpretation of the genotypes
 Genelex provides both the test and interpretation.
Both DNA Direct and Genelex offer this test DTC, rather
than through a medical provider.
 Genelex claims that pharmacogenomic testing is
“required to effectively prescribe Paxil”
 But, thereis a lack of consensus within the community
as to what genes are relevant to test for each SSRI.
 This lack of consensus is likely confusing to both
patients and doctors.
 Misleading marketing claims are particularly troubling
when tests are sold directly to consumers (DTC),
because there is no health-care provider to prevent
inappropriate test ordering or misinterpretation of test
results
 Clinical guidelines will continue to have an important
role in clinical care and will need to put the advances in
genomic medicine into a balanced health-system
specific context.
 Personalized medicine reduces the time, cost and
failure rate of clinical trials.
 It also increases safety and reduces adverse drug
reactions.

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PRESENTED BY:

SREEMOYEE SENSHARMA- 16BBT0163

Genomics, which has quickly emerged as the

 Themes: Cancer, CardiometabolicScience, Infection,

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