LAW 2516 Lecture Notes - Lecture 9: Human Genome Project, Genetic Testing, Carrier Testing
23 May 2018
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GENETIC TESTING
Definition
❖ Genetic testing is the direct analysis of DNA,
GNA, Genes, chromosomes for the purposes of
determining an inherited predisposition to a
disease or group of diseases National Human
Genone Research Institute
➢ 1 purpose- health related concerns
History of genetics
❖ Humans are 99.9% genetically identical to one
another; .1% makes us unique
❖ 1858: Charles Darwin wrote “on the origin of
species…” explaining natural selection
❖ 1865: Gregor Mendel’s experiments on peas
demonstrate that hereditary is transmitted in
discrete units
❖ 1868: DNA isolated from cells for the first time
❖ 1909: the word ‘gee’ is coined to describe these
units of heredity
❖ 1953: Watson and crick discover the double helix
structure of DNA
❖ 1975: DNA sequencing methods developed to be
able to identify order of the 4 nucleic acids (A, T,
C, G) in a strand of DNA
❖ 1990: human genome project launched
❖ 1994: first genetically modified food (tomato)
approved for consumption and sale
❖ 1996: dolly the sheep is cloned
❖ 2003: human genome sequencing completed
Current areas of genetic research
❖ Transmission genetics- how genes are transmitted
form one gen to next; how diseases are transmitted
❖ Epigenetics & population genetics- integration
genes have with environment. How these
contribute to disease
❖ Precision medicine: if all out DNA is unique, we
all must respond to drugs (pharmaceuticals) in
different ways. So drugs person A gets are
different to drugs person B gets because they may
respond differently to it based on your genetic
makeup
➢ Criticism: not practical/ economically viable
❖ Gene therapy and gene editing
➢ Can edit genes in persons body if they suffer
from a genetic condition
➢ Criticism: what impact does this have on the
environment? Changing genetic makeup of the
ecosystem.
▪ If changing genes in sperm/ egg-
implications for changing gene line to be
passed to future generations. Uncertainty
as to impact on human gene pool
➢ Concern about designer babies
What genetic testing tells us
❖ Forms of health-related testing
➢ Newborn screening: look for rare diseases
▪ Concerns as to CONSENT- baby just
born, parents flustered, do they actually
know their baby is being genetically
tested?
▪ Legislation implemented in VIC- req 2
part written consent
➢ Diagnostic testing: confirm diagnosis
➢ Carrier testing: whether you carry a gene
which could be detrimental to your future
children
➢ Prenatal testing: use embryos which don’t
carry a gene
➢ Predictive testing: test to determine your risk
of producing a disease
❖ Ordered by physician, req by patient in some
cases, or purchased by consumers online
❖ Genetic exceptionalism
➢ 2001 public survey found that 98% of people
agrees that rules governing access to genetic
info should be stricter than other forms of
personal info
➢ If genetic info so different from other types
of health info that it needs specific rules and
regulations to govern its use?
▪ Why genetic info is exceptional
• Intimate info, goes to core of
uniqueness as humans, core of identity
• Reveals info not only about individual,
but also genetic relatives
• Potential to reveal common traits in
communities/ populations that could
lead to discrimination
▪ Why it isn’t exceptional
• Many of the same issues arise in other
types of personal info
• Sensitivity of info is a relative
concept- some people may think its
sensitive, others don’t care
• Other types of info can be just as (if
not more) predictive of future health
outcomes (smoking, exercise, drugs)
find more resources at oneclass.com
find more resources at oneclass.com
Document Summary
Genetic testing is the direct analysis of dna, Gna, genes, chromosomes for the purposes of determining an inherited predisposition to a disease or group of diseases national human. Humans are 99. 9% genetically identical to one another; . 1% makes us unique. 1858: charles darwin wrote on the origin of species explaining natural selection. 1865: gregor mendel"s experiments on peas demonstrate that hereditary is transmitted in discrete units. 1868: dna isolated from cells for the first time. 1909: the word gee" is coined to describe these units of heredity. 1953: watson and crick discover the double helix structure of dna. 1975: dna sequencing methods developed to be able to identify order of the 4 nucleic acids (a, t, 1994: first genetically modified food (tomato) approved for consumption and sale. Transmission genetics- how genes are transmitted form one gen to next; how diseases are transmitted. Epigenetics & population genetics- integration genes have with environment.
