Genomics                                                       Genomics and                                               ...
R                            Test type                                                                            Examples...
R                                                                                                   Statutory Regulation  ...
R                Anti-Discrimination Measures                                              Direct-to-consumer (DTC)       ...
R                   New Practice Guidelines                but potentially in a routine fashion        reinsurers and insu...
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Genomic & personalised healthcare in india status check - Kapil Khandelwal, EquNev Capital,


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Kapil Khandelwal
EquNev Capital

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Genomic & personalised healthcare in india status check - Kapil Khandelwal, EquNev Capital,

  1. 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 76 Nov-Dec 2012 Medical Equipment & AutomationGenomics and Personalised Medicine in India.indd 76 1/9/2013 11:18:26 AM
  2. 2. R 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 Medical Equipment & Automation Nov-Dec 2012 77Genomics and Personalised Medicine in India.indd 77 1/9/2013 11:18:29 AM
  3. 3. R 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. 78 Nov-Dec 2012 Medical Equipment & AutomationGenomics and Personalised Medicine in India.indd 78 1/9/2013 11:18:31 AM
  4. 4. R 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. Medical Equipment & Automation Nov-Dec 2012 79Genomics and Personalised Medicine in India.indd 79 1/9/2013 11:18:33 AM
  5. 5. R 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, 80 Nov-Dec 2012 Medical Equipment & AutomationGenomics and Personalised Medicine in India.indd 80 1/9/2013 11:18:33 AM