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Transcript of Personal Genetics
Human Genetics, University of Warsaw 2014
Human genome complexity
3 billion base pairs
your sequence of interest
ncRNAs (tRNA, rRNA,
miRNA, siRNA, piRNA)
when looking for a specific gene, you must be ready to go really deep
substantial regulatory function
UCRs - ultra conserved regions across species - must mean something
much to be discovered in this area
A haystack of sequences
An iceberg of processing
(record of DNA)
(record of mRNA)
(record of proteins)
(interaction of many)
(record of chemical changes
in DNA and histones)
(record of genes silenced
(record of spliced mRNA)
Trait of interest
A decade (and more) of human genetics
in DNA sequencing techniques
first whole genome sequenced
bacteriophage phi X174
first fully automated
DNA sequencing machines
Human Genome Project
first free living organism genome sequenced
first draft of human genome
last chromosome sequence published in Science
99 to 20
DNA vs. proteins
in humans and chimpanzees
up to 99% corresponding DNA
only 20% corresponding proteins
"the material costs of sequencing at the time were "getting down to around about
10 cents a base
", says Michael Morgan"
this trend would've followed,
3 billion base pairs genome would cost
US$ 300 millions today
— if —
no longer thinking of "per base" cost
— instead —
we're rather thinking big,
actually, no longer talking base pairs
— in fact —
and this costs ca.
US$ 10 000
as for now, whole genome
testing is unaffordable
for many people
— but —
DNA sequencing cost
drops faster than Moore's law predicts
targets are set for
$1000 per genome
for the most forseeable future
Cost of DNA sequencing
DNA sequencing: know-how
Testing for diseases
the results of the test
are acurate and reliable
the results are of clinical significance
The three criteria of useful medical tests
the results are ready to be utalised with clear benefit
to patient's health
Testing for diseases
Types of screening
patient shows symptoms
patient is asymptomatic and seems healthy, but there's a disease in the family
— or —
genetic test to diagnose the predicted disease
deletions and chromosome aberrations
Personal Genome Project
Pills with your initials
Bespoke medication to maximise the treatment
"Bring your ancestry to life."
Human Whole-Genome sequencing - $4000
Next-generation Sequencing Technology provider
Polish company founded in 2007
Wide range of services. 150 - 5000 PLN
don't forget the environment
Design and commercialisation
Websites about personal sequencing
SNPedia is a wiki investigating human genetics.
The Ethical, Legal and Social Implications (ELSI) Research Program
was established in 1990 as an integral part of the Human Genome Project
program funds and manages studies, and supports workshops, research consortia and policy conferences related to ethical, legal and social implications of genetic and genomic research
National Human Genome Research Institute
genetic information storage
the rights to have an insight into genetic information
scientific usage of personal genetic information
the right not to know
applied also to family members who might be in the risk group
Up to 30 percent of people prescribed the medication do not activate the drug, and may as well take sugar pills
— Michael Christman, Coriell Institute for Medical Research, on clapidogrel - a heart attack medication
maximising treatment outcomes
diminishing adverse effects of drugs
saving money and time
The two main fields are
pharmaceutical companies designing drugs based on population genetics - releasing several variants of the drug to meet the most common patterns of metabolism
clinics having an insight into patient's genetics prior to, often speculative, cancer treatment -
e.g. saving patiens from ineffective chemotherapy
Is a division of the National Institutes of Health
Was established in 1989 to carry out the role of the NIH in the International Human Genome Project
Back in the 90s
lots of bacteria-based replication, purification, running gels, etc. = tedious and time-consuming
only relatively small sequences (can't do the whole genome - to much work)
nowadays quite obsolete
'next generation sequencing'
high throughput + high procedure
computer-based data analysis
several different technologies (pretty sophisticated)
Gene by gene, gel by gel
The procedure got global
Giga precision at nano scale
"FDA is concerned about the public health consequences of inaccurate results from the PGS device - the main purpose of compliance with FDA's regulatory requirements is to ensure that the tests work,"
-Alberto Gutierrez, director of the FDA's centre for devices and radiological health
using nanopores in graphene (carbon single-molecule-thick membrane) or polymer membranes
basically getting it down to a single molecule being sequenced
very precise, very sophisticated
A plethora of study information
every human on Earth having his or her genome sequenced
the sequences properly stored and available for scientists worldwide
that's a lot of information to work with - perhaps resulting in better understanding of human biology
watch the videos!
Cordero, P., and Ashley, E.A. (2012). Whole-genome sequencing in personalized therapeutics. Clin. Pharmacol. Ther. 91, 1001–1009.
Knoppers, B.M. 2010. Consent to ‘personal’ genomics and privacy. European Molecular Biology Organisation Reports. 11(6), 416–419.
Li, C. (2011). Personalized medicine - the promised land: are we there yet? Clin. Genet. 79, 403–412.
Maher, B. (2011). Genomes on prescription. Nature. 478, 22–24
Mullich, J. (2012). Tailored treatment. The Wall Street Journal. Available: http://online.wsj.com/ad/article/lifesciences-treatment (accessed 16/01/2014)
McGuire, A.L., Caulfield, T., and Cho, M.K. (2008). Research ethics and the challenge of whole-genome sequencing. Nat. Rev. Genet. 9, 152–156.
Tabor, H.K., Berkman, B.E., Hull, S.C., and Bamshad, M.J. (2011). Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am. J.
Med. Genet. A. 155A, 2916–2924.
Williams, R. (2010). Genomics in our own hands. The Lancet. 9, 656–657.
Author Unknown (2013). FDA bans personal genetic test kit. BBC.
Avaiable: http://www.bbc.co.uk/news/technology-25100878 (accessed 16/01/2014)
Where it all began
Roughly speaking ~700 megabytes
Google's efforts to bring big data genomics to reality
With big data come big partners
Genomics and personal genetics demand constant cooperation with bioinformatics and data analysis experts
Still a bit mysterious
as an indicator of improvement of DNA sequencing techniques