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Genomics & personalised healthcare in India: status check - Kapil Khandelwal, www.kapilkhandelwal.com
1. Genomics
Genomics and
Personalised
Medicine in India
Status Check
ince my article in my These include:
S column A Dose of IT last
year (19 September,
2011) titled “Genome on
an iPad” (http://www.slideshare.
net/XKAPS/your-genome-on-an-
During the last count, earlier
this year, around 900-odd tests are
being offered by various players
in India. These tests are offered
through the doctors, directly
ipad-9318207) and serving as the to the consumers/patients. As
Vice Chairman for Personalised competition intensifies and newer
Healthcare and Genomics at FICCI next generation gene sequencing
this year, Indian market is witnessing machines hit the Indian shores,
very fast development in launch of we would definitely see the costs
a slew of genetic and molecular of these tests reducing drastically
diagnostic with the affordability of the common
tests of man.
various
kinds. Recent Positive Global
Developments
When the human genome was
mapped the first time in 2000, it
cost around $3000 million and it
wasn’t actually the genome of a
single individual but
a composite
“everyman”
DNA of
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Test type Examples
Diagnosis of genetic disease Testing of patient, following indicative clinical findings, to confirm genetic diagnosis
Newborn screening Testing of newborn to identify conditions that require immediate initiation of treatment to prevent death or disability
Carrier tests Testing to identify an asymptomatic adult who is a carrier for autosomal-recessive or X-linked recessive conditions.
Testing is usually initiated on the basis of family history or because the genetic condition is common among
individuals of the patient’s ethnicity
Prenatal tests Testing to identify a fetus with a genetic condition. Testing is usually initiated on the basis of maternal factors or family
history that indicate increased risk. Some prenatal genetic tests are offered routinely; for example, maternal serum
screening to identify increased risk of neural-tube defects or Down syndrome
Adult onset of conditions Testing of asymptomatic young adults to identify a genetic condition that will occur later in life
Assessment of genetic risk Testing to identify an increased risk of future health problems, such as heart disease or diabetes
for common complex
diseases
Tests to predict drug Testing to identify an individual with less likelihood of response, or increased risk of adverse reaction, to a particular
response medication
Courts-mandated test Testing to private individuals, law enforcement and legal representatives to resolve paternity disputes, establish child
custody, assist with immigration claims, identify rightful heirs, assist with the adoption process
Year Test Initial application Market Opportunity
1951 Immunofluorescence Localization of ACTH in pituitary gland The discovery of a gene–
1963 Immunohistochemistry Tissue-specific antigens in cancer disease association lays the
groundwork for the development
1964 Cytogenetics Mother–son inheritance of ocular malformation
of a genetic test. We have
1972 In situ hybridization Assignment of human genes to chromosomes
successfully discovered the Indian
1976 Gene sequencing DNA sequencing of human chromosomes
Genome by CSIR. While all agree
1995 Microarray gene expression Differential gene expression at DNA level that the large Indian population
1996 Pharmacogenetics Expression of drug targets in human disease with a genetically diverse gene
2005 Companion diagnostics Pharmacogenomic drug–test co development pool and chronic diseases
2010 Whole-genome sequencing Mutation analysis in Charcot–Marie–Tooth Syndrome is a huge opportunity. These
Moores Law of Genomics: different technologies over the years for Genetic Testing opportunities in creating genomic
tests and treatment of diseases
several volunteers. The costs of genes and gives them data and will encompass:
genome sequencing have fallen about their ancestry and • Diagnostics
by over 100,000 fold in the last 12 genealogy based on those • BioIT and Informatics
years. As per this trend (called the tests. It has raised $ 50 million • Genetic counseling
Moore’s Law of Genomics), the from a powerful Russian • Clinical trials and development
costs of carrying out full genome billionaire. Including the new • Others-direct to consumer
sequencing would be less than funding, 23andMe has raised products and services
$1000. As a result the affordability about $102 million in capital • Core delivery of healthcare
and accessibility to such genetic to date. The more people who practices.
by patients is possible in the near take part in testing, the better An optimistic estimate as
future. Here are a few positive the data gets. The company worked by us pegs this around INR
developments in this direction: says the new investment will 50,000 million by 2020. The size
• The UK Prime Minister has go toward boosting its user of this market will have a derived
recently launched a national base of 180,000 customers to impact on the lab equipment,
DNA database of upto 100,000 one million people. To get to its production of diagnostic kits,
patients with cancer and rare goal of one million users, the chips and ancillary services in
diseases. company is lowering the cost India. This could be to the tune of
• 23andMe, based in Mountain of its Personal Genome Service INR 105,000 million by 2020. While
View, California, tests people’s to $99. various expert committees and
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Statutory Regulation
Pre-Market Review & Regulatory
Oversight
Several countries have now
implemented regulations to
manage this sector and also
protect the individual citizens of
their countries for any adverse
fall out due to the introduction of
genetic tests. Some countries have
provided regulatory moratoriums
for 5 years to watch how the
sector is shaping up before
regulating it. There is a need to
benchmark some of the regulatory
best practices and experiences of
countries that are step ahead of
India in framing the regulations.
Quality Assurance Regulations
and Protocols for Labs for the
Tests
A lot of work has been done
by several countries in OECD
to adopt a common quality
assurance framework for genetic
testing in their countries. While
a few protocols are available for
clinical trials there is a need for
an elaborate protocols in India
for these tests. What also needs
to be understood now is whether
the labs that provide these tests
need to come under India’s
white papers are being prepared
by various industry groups to
ensure viability and growth of this
segment, it is still early on how the
issues & regulation of this sector
pans out. However, some of the
Indian and global experts that I
spoke to seem to be skeptic that
Indian market may even be half
as big.
Framework to Enable
Genomics & Personalised
Healthcare in India of diseases in healthcare. The
While several scientific and following framework would help in NABL accreditation or a separate
research agencies in India have guiding the discussions forward. A independent regulatory body
conducted research in this space large part of my discussions with under the lines of TRAI or IRDA
over the last decade. It is time that it relate to statutory regulation and needs to be formed to ensure
is exploited widely in the treatment healthcare delivery. speed clearances.
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Anti-Discrimination Measures Direct-to-consumer (DTC)
US (Genetic Information Non- • The purpose of the test • Available medical
discrimination Act) and European • A general description of the surveillance, treatment,
countries have introduced testing process and/or reproductive options
laws that limit employers’ • A description of the diseases following testing
and/or health insurers’ use of or conditions tested for, • A statement that, prior to
genetic information to a varying including their ranges of providing informed consent
degree. These laws indicate a severity to genetic testing and after
consensus against the use of • The risks and benefits of, and receiving the results, the
genetic susceptibility information alternatives to, the predictive individual may wish to
in access to health services & genetic test obtain professional genetic
employment. Whether genetic • Confidentiality issues, counseling.
information is likely to be used for including confidentiality • The risks of transmitting the
this purpose is not yet clear, and protections, the circumstances relevant mutation to children
the optimal regulatory strategy under which results of tests and that the mutation may
remains uncertain. There are no may be disclosed without be present in other blood
such regulations in India that the patient’s consent, and relatives
enable consumer protection. the names of persons and/ • A statement that no tests
Protection for Offshore Tests or organizations to whom other than those authorized
Currently over 75% of the tests the patient has consented to will be performed on the
conducted in India are through disclose the results biological sample and
the labs in the US, Europe and • Protections against adverse that the sample will be
Singapore. Regulation of testing uses of genetic information destroyed at the end of
done in laboratories in other • The chances of false positive the testing process, or not
countries is limited. Direct-to- and false negative results more than a specific period
Consumer DNA genetic tests • The meaning of both positive of time after the sample was
that are offered and conducted and negative results taken, unless the subject
by overseas-based laboratories • The ability, or lack thereof, of consents to a longer period
are not regulated in India. There the test to predict a disease’s of storage
are no protections applicable to severity and age of onset • That the test is voluntary
Indians against overseas based • The possibility that no • An offer to answer inquiries
laboratories. This could leave additional risk information will • The fees charged for the
Indian consumers at risk should be obtained at the completion laboratory tests and pre-
problems arise. of the test and posttest counseling.
Marketing & Direct-to-
Consumer (DTC) Testing
Today, several genetic tests Healthcare Delivery Departments would play an
are being advertised and sold Public Health Allocation in important role in educating the
directly to the consumers, both Genomics & Personalised public about genetics generally
through the websites of the Healthcare and about particular genetics
labs and service providers and Globally, public health services that are available to the
through their agents in India. assessment activities in public. They also should support
There are not enough consumer the genetic context include production and dissemination of
protection guidelines being population surveillance and genetics educational materials
issued to protect the Indian molecular genetic epidemiology to health care providers. In this
consumers. Some of the key research. Policy development context the Ministry of Health and
executives at the Consumer activities include the translation Family Welfare would be required
Genomics Companies from the of scientific and medical to issue guidelines to enable
US that I spoke to believe that the discoveries about genetics this. There are also needs for
Indian regulatory environment is into guidelines, regulations, upgrading the labs with the latest
not yet mature for DTC genomics and legislation to promote the next gen sequencing equipment
testing. public’s health. Public Health at the Public Health Labs in India.
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New Practice Guidelines but potentially in a routine fashion reinsurers and insurers in India
and Treatment Protocols for multiple times over the course of on various scenarios, that the
Treatment disease. However, at this point country may take, provide a very
My discussions with the in time, the decision to conduct grim outlook. While many of the
personalized healthcare and these tests are best left to the CPT and ICD codes associated
genomics experts reveal new clinical team treating the patient. with these tests are available
practice guidelines need to be In a few years, it may be possible in the US and other countries
developed, which can better to conduct a prenatal and new globally, they are yet to touch the
integrate biological information born tests on all children born in Indian shores. While some of the
for a complete picture of health India and be linked to their UIDs! insurance experts believe that
& disease at a personalized level. these tests would not be covered
The three areas where they are Education of healthcare by health insurance policies
required are- providers in India as there are no riders
Diagnostic medicine: Identify While there is consensus available. On the other hand the
whether an individual has a certain amongst the labs and pharma industry is awaiting guidance
genetic disease. This type of test about the need to educate the from the Health Insurance
commonly detects a specific gene doctors about the benefits of this Regulator, IRDA on this issue.
alteration but is often not able new science, the task at hand of Health insurance coverage for
to determine disease severity or reaching out top 300,000 doctors these tests would be one of the
age of onset. It is estimated that across the length and breadth of key enable for genomics and
there are >4000 diseases caused India is huge. Different medical personalized healthcare in India.
by a mutation in a single gene. and physician associations
Examples of diseases that can welcome the need for conducting Conclusion
be diagnosed by genetic testing continuing medical education By building public trust, a
includes cystic fibrosis. (CME) programs, there are issue future reality can be envisaged
Predictive medicine: Determine of logistics to be worked out. On in which genomic testing can
whether an individual has an the other hand, some of the well- identify clinically relevant
increased risk for a particular known medical colleges in India abnormalities early in the disease
disease. Results from this type are also considering introducing course, and guide effective
of test are usually expressed modules in their PG and super intervention in a timely fashion.
in terms of probability & are specialisation programs. There The fundamental concept of a
therefore less definitive since is need for the apex medical future business model in India
disease susceptibility may also bodies in India to issue proactive is that genomically informed
be influenced by other genetic & guidelines to enable this. medicine will cost less and
nongenetic (e.g. environmental, deliver better care across the
lifestyle) factors. Examples Health Insurance longitudinal span of patient health
of diseases that use genetic Coverage for Genomics in the near future. Mitigating
testing to identify individuals with and Personalised against this optimistic future
increased risk include certain Healthcare in India reality are a host of uncertainties,
forms of breast cancer (BRCA) & My discussions with the health as outlined.
colorectal cancer.
Pharmacogenomics: Classifies
subtle variations in an individual’s Kapil Khandelwal, recognised as an expert in health sciences,
genetic makeup to determine education, agri and information communications and technology (ICT)
serves several company boards and industry advisory committees
whether a drug is suitable for a
in these sectors. His expertise positions him as one of the thought
particular patient, & if so, what leaders in India, Asia Pacific and Emerging Markets. Kapil runs his own
would be the safest & most investment banking and advisory services company, Equnev Capital. He
effective dose. Given that the has carried out over 30 transactions including cross-border and played
Kapil an influencing role with the Governments in India and abroad. He has
costs of conducting whole-
Khandelwal Chaired FICCI’s Personalised Healthcare and Genomics Committee and
genome sequencing could come
down to a few thousand rupees, provided thought leadership and direction to policies and regulation in
this area.
these tests can be done not once,
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