Genomics and Genetic Testing

Preliminary
Human

observations:

Genome Project: 1990, $2.7 billion, 12.5

years;
25,000-30,000 genes, 50th anniversary-Watson,
Crick
Goal: find genetically-based diseases/eradicate
them
Questions: availability of technology, is cost
justified,
what other medicine would be sacrificed,
naturenurture debate solved, rights to privacy,
discrimination?

Advances in genomic medicine:

Preventive care tailored to genetic traits

Gene-based therapies (recombinant DNA)
Increase drug compatibility
Replacement organs
Eugenics

Information on genetics:
Somatic cells (except red blood) have same DNA
Genome: all DNA, 46 chromosomes (non-coding)
Danger of mutations:
Cause disorder, create carrier, can predispose
us to develop a disorder

Origin of eugenics

Gregor Mendel, OSA, discovers inheritance laws

Francis Galton proposes eugenics (1865)

Positive: promote desirable traits by selective breeding

Negative: breeding out undesirable traits (voluntary?)
Forced sterilization for feebleminded (Buck v. Bell)

Aftermath: reproductive technologies, prenatal

and pre-implantation diagnosis, selective abortion,
reproductive injustice/unequal distribution,
reductionism (genes explain person), issues of
privacy/confidentiality, job or insurance
discrimination

Ethical Issues and Analysis

Technological progress must not outpace

ethics.
Genetic testing:

Examine chromosomes to predict disease, or

identify carriers, prenatal/clinical
diagnoses/prognoses, clinical care

Types:

Newborn screening (can be declined by parents)

Avoid passing on disease gene (sickle cell, cystic
fibrosis, Tay-Sachs)
Ethics: not for knowledge alone, but can give
helpful information, reasons against
reproduction; issues of informed consent,
confidentiality, social support, access to health
care

Diagnostic testing: Identify or confirm diagnosis of

disease, condition
Ethics: duty to divulge, usefulness of
information, who decides action for minors

Predictive testing: Determine probability of

contracting a disorder (increased risk)
Ethics: false positives, negatives; discrimination;
fairness in access to testing and treatment

Presymptomatic testing: Determine harmful gene

mutation with high degree of likelihood
Ethics: similar to above considerations

Gene Therapy and Genetic Enhancement

Technique for reversing, reducing, or eliminating

genetic diseases by correcting defective genes
by gene replacement, reverse mutation, or
turning off mutated gene (recombinant DNA
therapy)

Somatic cell techniques

Troublesome history: Jesse Gelsinger (1999),
vector (virus) reaction
Scientific obstacles: temporary benefits,
unpredictable immune reactions, viral vectors
unsafe, multiple-gene disorders not addressed
Ethical concerns: equally helpful alternatives,
proportionality of benefit/harm, fair selection of
subjects, informed consent, privacy,
confidentiality

Germ-line techniques:
During in vitro fertilization, preimplantation genetic
diagnosis
Advantages: earliest stage of human development,
avoid damage to later embryo, more efficient and
cost-effective than somatic techniques
Risks: unintended mutations would affect future
offspring (serious concern)
Normative framework: destruction of embryos in
early experimental phase, effect on societal
attitudes toward victims of diseases in question,
weakening of virtues of
solidarity/relationships/equality, basis for judging
undesirable genes

Genetic enhancement:

Distinction between curing/preventing disease

(therapy) and improving human traits (eugenics)

Ethical issues:

Enhancement advocates equate genetics with vaccines

or medications preventing illness and social measures
for improving quality of life (schools)
Normative approach calls for caution:
Concern for the disadvantaged (common good,
basics)
Eugenics is likely to favor the already privileged
Emphasis on physical/intellectual traits would
increase and lead to further disparities in society
and less recognition of intrinsic human worth of
each person and true flourishing through right
relationships