Transcript Ethics of Genetics Testing

Ethics of Genetics Testing
SARAH LEWIS PA-C
Objectives
Upon completion of this discussion the PA student will:
 Define Eugenics and list historic precedents that have influenced
American culture, values and laws regarding genetic testing
 Discuss the issues related to genetic testing and the use/misuse of
genetic information
 Describe the value of genetic tests and further state a case for
personalized healthcare
 Describe the purpose of the Human Genome Project and identify
resources related to defining the human genome
 Critically evaluate the current laws related to genetic testing
 Differentiate between embryonic and stem cells lines obtained from
other sources. Describe the value and problems with each
 Analyze the current debate over federal funding for new stem cell
lines and articulate an argument for or against federal funding for
stem cell research
Eugenics
 Define Eugenics
 is the study and practice of selective breeding applied to
humans, with the aim of improving the species
 Eu= good or well; genes= born
 Positive eugenics encourages reproduction among
the “genetically advantaged”
 Negative eugenics lowers fertility among the
“genetically disadvantaged”
 Can you guess how this has been applied
historically?
Eugenics in History
 Ancient cultures infanticide- Rome, Sparta
 1880’s-1930s and beyond: eugenic policy to sterilize
certain mental health patients in the US, Belgium,
Brazil, Canada, Sweden and others
 Nazi Germany: racial ‘hygiene’, human
experimentation and extermination
 Swedish eugenics until 1975
Human Genome Progect
 identify and map the approximately 20,000–25,000 genes
 ~8% remains, including the telomeres, centromeres, loci,
and heterochromatin
 Headed by James Watson and the NIH in 1990,
Francis Collins in 1993
 OMIM= Online Mendelian Inheritance in Man ®
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http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
information on all known mendelian disorders and over 12,000 genes
phenotypes and genotypes
Value of Genetic Tests
 Diagnostic
 preimplantation genetic diagnosis
 prenatal diagnostic testing
 newborn screening
 confirmational diagnosis of a symptomatic individual
 forensic/identity testing
 Predictive
 carrier screening
 proactive healthcare
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presymptomatic testing for predicting adult-onset disorders
Prenatal Genetic Screening
 Chorionic villus sampling (CVS)
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between 10 and 12 weeks of pregnancy
the villus cells in the placenta have the same genetic composition as
the cells in the fetus's tissues
 Other techniques looking for embryonic cells in a mother's
blood and plasma
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In development still
safe and relatively inexpensive cytogenetic analysis
 Preimplantation genetic diagnosis = PGD
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a single cell, or blastomere, is removed from an embryo that has been
fertilized in vitro, and this cell is tested for genetic abnormalities
If passes tests the rest of the embryo can then be transferred to the
mother's uterus
Fertility Ethics
 embryo-harvesting techniques associated with IVF
 excess embryos after PGD
 Cryopreservation?
 donate their embryos to stem cell research?
 donate to another IVF candidate ?
 embryos as a marketable commodity?
Newborn Genetic Screening
 small blood sample is collected from newborn
infants within 24 hours of birth and tested for a
panel of disorders.
 Between 3-40 tests(MedlinePlus, 2008) depending
on geographic region
 can save an infant's life- early diagnosis and
treatment are imperative for a good outcome.
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phenylketonuria (PKU)-unable to properly metabolize the
amino acid phenylalanine
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diet that is low in phenylalanine
Testable Genetic Diseases
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Alpha-1-antitrypsin deficiency (AAT; emphysema and liver disease)
Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis and death)
Alzheimer's disease* (APOE; late-onset variety of senile dementia)
Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts and ovaries)
Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon and sometimes other organs)
Central Core Disease (CCD; mild to severe muscle weakness)
Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs)
Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male pseudohermaphroditism)
Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections)
Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting, deterioration, weakness)
Dystonia (DYT; muscle rigidity, repetitive twisting movements)
Emanuel Syndrome (severe mental retardation, abnormal development of the head, heart and kidney problems)
Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
Factor V-Leiden (FVL; blood-clotting disorder)
Fragile X syndrome (FRAX; leading cause of inherited mental retardation)
Galactosemia (GALT; metabolic disorder affects ability to metabolize galactose)
Hemophilia A and B (HEMA and HEMB; bleeding disorders)
Hereditary Hemochromatosis (HFE; excess iron storage disorder)
Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease)
Marfan Syndrome (FBN1; connective tissue disorder; tissues of ligaments, blood vessel walls, cartilage, heart valves and other structures abnormally weak)
Mucopolysaccharidosis (MPS; deficiency of enzymes needed to break down long chain sugars called glycosaminoglycans; corneal clouding, joint stiffness, heart
disease, mental retardation)
Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy)
Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet)
Polycystic Kidney Disease (PKD1, PKD2; cysts in the kidneys and other organs)
Adult Polycystic Kidney Disease (APKD; kidney failure and liver disease)
Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death)
Sickle cell disease (SS; blood cell disorder; chronic pain and infections)
Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reflex disorders, explosive speech)
Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children)
Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis)
Thalassemias (THAL; anemias - reduced red blood cell levels)
Timothy Syndrome (CACNA1C; characterized by severe cardiac arrhythmia, webbing of the fingers and toes called syndactyly, autism)
BRCA1 and BRCA2
 5-10% of Brest Cancers are genetic
 mutations on the BRCA1 and BRCA2  up to an 85%
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greater lifetime chance of developing breast cancer than
women with unaffected genes
increased risk of ovarian, pancreatic, gastric, or prostate
cancers than people without the mutations.
People of Ashkenazi Jewish descent have a higher
incidence of inheriting these
Prophylactic surgery?
Increased screening?
Chemoprevention?
Hereditary Nonpolyposis Colerectal
Cancer (HNPCC)
 5 percent of colorectal cancer patients have an inherited form of the
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disease
Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch
syndrome, results in an increased risk of colon cancer and other
cancers—specifically, endometrial and ovarian cancers in women;
gastric cancer; and urinary tract cancer.
HNPCC presents few symptoms in early stages.
germline mutation on any of several mismatch repair genes, whose
job it is to prevent DNA errors during replication: hMLH1, hMSH2,
hPMS1, hPMS2, and hMSH6. People who have inherited an altered
mismatch repair gene have about a 70 percent to 80 percent lifetime
chance of developing colon cancer.
Early colorectal screenings, removal of precancerous
Screening for other cancers associated with the condition.
Familial Adenomatous Polyposis (FAP)
 A second type of hereditary colon cancer, familial
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adenomatous polyposis, or FAP, involves a mutation of the
adenomatous polyposis coli (APC) gene on chromosome 5.
The APC gene’s role is to control cell growth.
FAP causes hundreds of polyps to grow, often starting when
patients are in their teens, which then become cancerous.
If an FAP patient does not seek treatment, there’s a nearly
100 percent chance he or she will develop colon cancer by
age 45.
removing the colon may be the only choice
Researchers continue to search for an effective medical
treatment.
Long QT Syndrome
 LQT3 gene, on chromosome 3, are prone to
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abnormal heart rhythms while they are asleep.
mutated on chromosome 11 arrhythmia while the
person is under stress.
mutation on chromosome 21  arrhythmia when a
person is exercising.
prescribed beta-blockers, which can slow the heart
rate as long as they take it
Pacemaker or defibrillator may be needed
Genetics and the Law
 GINA: The Genetic Information Nondiscrimination
Act of 2008
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prohibits discrimination in health coverage and employment
based on genetic information
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However insurers can increase rates
do not apply to employers with fewer than 15 employees
do not extend to life insurance, disability insurance and longterm care insurance.
does not mandate coverage for any particular test or
treatment.
Genetics and the Law Topics
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Diagnostic Testing and the Ethics of Patenting DNA
Intellectual property rights offset the financial risks of funding research but limit
information access. Can a balance between private interests and public desire for
treatments be achieved?
Protecting Your Genetic Identity: GINA and HIPAA
Genomics could enable the misuse and abuse of our most personal information. On the
other hand, could genetic privacy acts like GINA and HIPAA close the shutters on
progress in health research?
Forensics, DNA Fingerprinting, and CODIS
How ethical is it to keep a database of convicted felons' DNA profiles? Can we rely on
DNA fingerprints for conviction? Many ethical issues surround the use of DNA in forensic
technology.
Legislative Landmarks of Forensics: California v. Greenwood and Shed DNA
Everywhere we go, we leave our DNA behind. Forensics profits from this “abandoned”
DNA to solve crimes. As technology improves, could we wind up with a database of
everyone’s DNA – including yours?
Sports, Gene Doping, and WADA
Gene doping could stretch the physical limits of human strength and endurance. What
are the consequences of gene therapy in sports competition, and more, importantly, is it
safe?
Small group discussion:
Reproductive and Other Familial Concerns
 “Should a carrier of a known genetic risk be
obligated to tell his or her relatives (Forrest et al.,
2007; Gaff et al., 2007)?
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Although some people feel that an individual who is found to
carry a dominant gene for Huntington's disease has an ethical
obligation to disclose that fact to his or her siblings, there
currently is no legal requirement to do so.
In fact, requiring someone to communicate his or her own
genetic risk to family members who are therefore also at risk is
considered by many to be ethically dubious.”
Small group discussion:
Reproductive and Other Familial Concerns
 In the case of HD, although there is no way to treat or
prevent this condition, knowing one's status could
influence many life decisions.
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Would you have chilren?
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Use PGD?
Still get tested if you have children?
If predicted to have symptoms at age 40 how would this affect how
you live your life?
What if you were cleared by testing but your kids and siblings were
not?
Not get tested at all?
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“Research has shown that individuals with a family history of genetic
disorders who know they are at risk but choose not to get tested can
have difficulties in social interactions (McConkie-Rosell et al., 2008).”
Genetic Testing Open to the Public
 http://www.pbs.org/wnet/religionandethics/episode
s/september-4-2009/personalized-genetictesting/4113/
 8 ½ minute video from PBS
Personalized Genetics Testing
 Health insurance coverage/denial
 GINA to prevent discrimination
 Employers knowledge of predispositions
Stem Cell Differences
 Embryonic stem cells have the ability to differentiate
into any type of cell
 Adult stem cells are specialized
 Induced Pluripotent Stem Cells- reversed specialized
cells differentiation- host specific
 Neuroprogenitors unable to be extracted from adult
lines thus far
 Use of embryos for stem cell lines murder?
 Does the possibility of curing spinal cord injuries or
Parkinson’s outweigh this?
 As genetics allows us to turn the tide on human
disease, it's also granting the power to engineer
desirable traits into humans. What limits should we
create as this technology develops?
GATTACA Movie
 http://www.youtube.com/watch?v=o7OYCmynrRU
&feature=related
 2 ½ minute trailer on YouTube
The End