Personal genomics
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Transcript of Personal genomics
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PERSONAL GENOMICS
Maryam Nazir
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Personal Genomics: Branch of genomics concerned
with the sequencing and analysis of the genome of an individual
Once sequenced, it can be compared with published literature to determine likelihood of disease risk or trait expression
Main aim: to inform preventative action
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Techniques SNP arrays Partial sequencing Whole genome sequencing
Can be used to evaluate:○ SNPs○ Indels○ Large SVs○ New sequences○ Haplotypes
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Cost of Sequencing Continual development of new sequencing
technologies, next-generation sequencing
Increased speed and reduced cost of sequencing
Now possible to offer genetic testing to consumers
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Personal Genome Project Large, long-term study Aim: To sequence and publicize the
complete genomes and medical records of 100,000 volunteers
All data will be available in the public domain
Purpose: To enable research in personal genomics and personalized medicine
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Each participant:Full DNA sequenceExtensive phenotype information
○ Medical records○ MRI images○ Other measurements
Volunteer criteria:Permanent residents of the US, Canada, UKAble to submit tissue and/or genetic samplesInformed consent“no promise of anonymity and data return”
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Personalized Medicine A model of medicine which proposes
the customization of healthcare with medical decisions being tailored to the individual patient
Goal: To individualize prevention, diagnosis, and treatment--by use of genetic differences as markers
Disease risk>2500 diseases have predictive medical
value○ Can be recommended for genetic tests for
single genes or whole genome sequencing
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Gene signaturesGene expression pattern in a cell can be uniquely
characteristic of a conditionRisk assessment, diagnostic & prognostic applicationsMatch patients and treatments
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Pharmacogenomics Field that analyzes how
genetic makeup affects an individual’s response to drugs
Want to tailor treatments for patients based on their genetics
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Cancer genomics Main goal: to identify genes, or gene
signatures, that may provide insights into cancer diagnosis, predicting clinical outcomes or targets for cancer therapies
Tumour sequence is compared to a matched normal tissue
Personalized cancer treatments Genetic profiles of tumours part of
recommended evaluation for certain cancers (colon, breast, lung...)
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Nutrigenomics Study of how individual
genetic variation affects a person’s response to nutrients and impacts their risk of nutrition-related chronic diseases
People respond differently to certain foods
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Human Ancestry Looks at a person’s DNA at
specific locations compares results to defined groups
Mitochondrial DNATraces direct maternal line
Y-Chromosome DNATraces a male’s direct paternal line
Autosomal DNATests all ancestry, shows how
closely a person is related to others
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Commercial Services Gentle
most comprehensive genetic test currently on the market
screens for >1700 genetic conditionspredicts response to certain medications
HelloGenome (Korea)genotyping (SNP chips) and full genome sequencing (Solexa
machines) Illumina, Sequenom, Oxford Nanopore Technologies,
Pacific Biosciences, Complete Genomics, 454 Life Sciencescommercializing full genome sequencingdo not provide any genetic analysis or counselling component
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Positive Bioscience (Mumbai) Next-generation sequencing To determine most beneficial
cancer treatment for patients Nutrigenomix
SNP genotyping Each gene tested is involved in
the way the body processes a certain dietary component
With information obtained, can tailor the diet to prevent chronic diseases (cancer, heart disease, type 2 diabetes) -ex. Caffeine
Only available through registered dieticians
$385
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23andMe Mail order “spit kits” SNP genotyping (DNA array) Assessment of:
inherited traitsancestrygenetic risk for >240 diseases and common
conditions Information presented in user profile $99
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Ethical Issues Personal privacy & misuse of information
Whose responsibility? Who owns the genomic info?
Genetic discrimination Discrimination based on information obtained from
an individual’s genome Genetic Information Nondiscrimination Act (U.S.)
○ Prevents discrimination by health insurers and employers, but does not apply to life insurance or long-term care insurance
Psychosocial stress Consequence of knowing one’s predisposition to
disease Know risk, have no cure
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Other Issues How relevant are the results of
commercial services? Clinical utility?
Education needed in interpreting results and communicating genetic informationFor the average person/patientFor doctorsFor the public & media
genetic counselling
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Conclusions A fairly large number of loci that are known to
be predictive of disease have been identifiedMany of these can be clinically targeted
Immediate applications are limited at present The promise of personal genomics lies in the
futureMust first build a database of personal genomes
Many people envision a future where personal genomic information is one of the essential tools used to tailor one’s medical care
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References Offit, Kenneth. "Personalized medicine: new genomics, old lessons." Hum
Genet. 130. (2011): 3-14.
Snyder, Michael, Jiang Du, and Mark Gerstein. "Personal genome sequencing: current approaches and challenges." Genes Dev. 24. (2010): 423-431.
Werner, Thomas. "Next generation sequencing in functional genomics." Briefings in Bioinformatics. 2.5 (2010): 499-511.
Cooper, David N., et al. "Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics." Human Mutation. 31.6 (2010): 631–655.
Chin, Lynda, Jannick N Andersen1, and P Andrew Futreal. "Cancer genomics: from discovery science to personalized medicine." Nature Medicine. 17.3 (2011): 297-303.