Prenatal Genetic Testing

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Prenatal Genetic Testing

• The disability critique

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The Issues

• There is no unanimous decision regarding if/how
  prenatal genetic testing should be conducted
  (Rosen, 2002)
  
• Primary issue of concern Is it in the best
  interest of the fetus?
  
• Focused on Eugenics the science of improving the
  human race good creation (Glannon, 2005)

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• To advance human good and avoid harm,
  biotechnology must be used within ethical
  constraints. It is the task of bioethics to help
  society develop those constraints and bioethics,
  therefore, must be of concern to all of us."
  (Kass, 2006)

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Mendel, Gregor Johann (1822-1884)

• Known as the father of modern genetics. He
  studied the variation and heredity of seven pairs
  of inherited characteristics in pea plants. His
  work has become the basis for the present day
  field of genetics.
• Dominant vs recessive traits (Encarta, 2003)

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• In 1953 American biochemist James Watson (left),
  and British biophysicist Francis Crick (right),
  described the structure of the DNA molecule as a
  double helix

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History of PGT

• 60s 70s led to several important discoveries,
  which led to modern techniques for studying
  genetics
  
• Making use of these new techniques, several genes
  for important human disorders were discovered in
  the 80s
  
• Collectively, the work conducted between 1980
  1993 led to the birth of modern clinical
  molecular genetics
  
• In 1990, the Human Genome Project formally began
  international scientific collaboration that seeks
  to understand the entire genetic blueprint of a
  human being
• In 1995, the first sequence of a genome of an
  entire living organism was achieved
  
• 1997 - A sheep named Dolly was cloned.
• 1998 - Dolly gave birth to Bonnie
• In 1998, the first complete gene sequencing of a
  complex animal was achieved
  
• In 1999 the first human chromosome was completely
  sequenced (Mayo Clinic, 2001)

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Origin and Context

• - Also in 1999, it was announced that there had
  been an established rough draft of the entire
  human genome, revealing that humans have approx.
  30, 000 genes interacting in complex ways
• - This work will produce important insights into
  genetic history and result in the discovery of
  the causes of many disorders, as well as offering
  new drugs and therapies (Mayo Clinic, 2001)

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Testing for

• Lesch-Nyhan Syndrome
• Tay-Sachs
• Sickle cell anemia
• Cystic fibrosis
• Downs syndrome
• Spina Bifida
• Huntington's Chores
• And many others, including
• Hemophilia
• BRCA I/BRCAII
• Other endocrine disorders

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Methods of Prenatal Genetic Testing

• Amniocentesis
• CVS
• Ultrasound
• Maternal serum screening (Labcorp, 2006)
• Four Methods of testing
• Cytogenic testing analysis of the number and
  shape of chromosomes
  
• Fluorescence in situ hybridization protein
  analysis/chromosomal arrangements and study of
  protein markers
  
• Biochemical testing protein and enzyme analysis
  of the blood
  
• Indirect/direct analysis of DNA strands (Carrier
  screening)
  
• (Labcorp, 2006)

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Supports For

• Can identify genetic disorders and diseases early
  on example, Spina Bifida which can be treated in
  utero (Curnow, 2003)
  
• Can further research initiatives (Botkinm 2001)
• Allows the family to decide if they want to carry
  out the pregnancy or not, if the child has a
  severe illness or disability (Reilly, 2000)
  
• Aids in the development of Gene therapy to cure
  disease
  
• 67 approve of genetic testing of embryos during
  in vitro fertilization procedures to select those
  embryos free of fatal disease.
  
• 49 of fundamentalists and evangelical Christians
  support genetic testing for the same reason.
  
• Personalized medicine- refers to using
  information about a persons genetic makeup to
  tailor strategies for the detection, treatment or
  prevention of disease. 

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Gene Therapy

• Gene therapy may one day be used to treat, cure,
  or prevent a variety of genetic disorders.
  
• In gene therapy, a type of virus known as a
  retrovirus is used to replace a defective gene in
  cells with a new, healthy gene (Encarta, 2003).
  

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Support ForPrenatal Genetic Testing and Eugenics

• Having healthier more intelligent people save
  societys resources and human suffering.
  
• Some feel that a decline in intelligence is
  occurring leading to the collapse of civilization
  and that eugenics will improve this situation
  
• Eugenics can cure a child from a life long
  struggle with emotional and physical pain and
  developmental difficulties due to a disease or
  abnormality
• The production of smarter people through eugenics
  can help with the discovery of cures to health
  ailments such as AIDS and cancer and will intern
  save human kind and prolong life.

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Arguments Against PGT

• "My concern is that once you put human life in
  human hands, you have started on a slippery slope
  that knows no boundaries, (Kass, 2006)

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Arguments Against

• Disability Critique encourages negative
  social attitudes and beliefs of disabled persons
  (Raz, 2005)
  
• Many believe that genetic counseling is not
  sufficient enough to provide true informed
  consent and is based on misinformation (Raz,
  2005)
• Encourages the abortion of undesirable fetus
  (Munson, 2003)
  

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• Genetic testing contributes to a continuing,
  persistent, pervasive discrimination in
  rejecting an otherwise desired child Asch,
  1999.
• 92 believe that it would be wrong to use
  genetic testing to select the sex or other
  non-health related genetic characteristics of a
  child.
• 70 feel that the use of reproductive genetic
  technologies represents a slippery slope on the
  way to treating children like products.

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• Confidentiality issues- do the parents share the
  results with extended family (Arden-Jones,
  2003)?
  
• Possible abuse of technology ex. Nazi party
  distorted view of eugenics (Glover, 2001)
  
• Legal issues would the individual be obligated
  to share their genetic info with insurance
  companies - would they be discriminated against?
  (Emsemauer, 2005)

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Current Research
More efficient technologies permit simultaneous
screening for multiple disorders, referred to as
multiplex capabilities, as well as advances in
the understanding of the genetic basis of
disease, increasingly facilitate screening for
many more disorders. Up to 29 conditions can be p
renatally screened and up to 50 conditions can be
screened in newborns. (Green, 2006)
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• Preimplantation genetic diagnosis (PGD) is now
  used in the field of assisted reproduction for
  aneuploidy screening and diagnosis of unbalanced
  inheritance of chromosome abnormalities
  (translocations). (Green, 2006)

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• By 2008 it is expected that the Alzheimer gene
  will be unravelled and a test will be ready to
  determine gene prenatally.
  
• Type 2 Diabetes gene mutation has been identified
  (TCF7L2) and a genetic test should be available
  next year.
  
• Pfizer claims to be close to finding the genes
  for schizophrenia, bipolar disorders and severe
  depression. (Kalb, 2006)

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Implications for Nurses

• Follow Nursing Code of Ethics
• Be aware of views, attitudes, beliefs and biases
• Need to be mindful of our role avoid giving
  parents our personal opinions
  
• Promote the interests of the fetus and the
  family
  
• May become involved in Genetic Counseling

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Genetic Counseling

• Is a medical specialty that helps parents and
  prospective parents evaluate and cope with their
  risk of passing hereditary disorders to their
  children.
• provided by a team of health experts at a medical
  center.
  
• Genetic counseling is helpful to parents who
  already have a child with a genetic disorder so
  they can learn more about the condition and the
  chance that their other children may be
  affected. (Encarta, 2003)

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Professional Considerations

• Problems Encountered in Genetic Counseling and
  Prenatal Diagnosis (McKinney, 2000 pg 186)
  
• Inadequate medical records
• Family members refusal to share information
• Records that are incomplete, vague or
  uninformative
  
• Inconclusive testing
• Too few family members available when family
  studies are needed
  
• Inadequate number of live fetal cells obtained
  during amniocentesis
  
• Failure of fetal cells to grow in culture
• Ambiguous prenatal test results that are neither
  clearly normal nor clearly abnormal
  
• Unexpected results from prenatal diagnosis
• Finding an abnormality other than the one tested
  for
  
• Non paternity revealed
• Inability to determine the severity of a prenatal
  diagnosed disorder
  
• Inability to rule out all birth defects

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• Further more it is vital that we, as health care
  professionals, along with prospective parents,
  are mindful that one genetic mutation is only a
  characteristic of the child. It does not define
  them entirely. (Asch, 1999)

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References

• Arden-Jones, A. et al. (2003). Balancing autonomy
  and responsibility The ethics of generating and
  disclosing genetic information/ Commentary/
  Reply. Journal of Medical Ethics. 29, 2, 74-85.
• Asch, A., Parens, E. (1999). The Disability
  rights Critique of Prenatal Genetic Testing. The
  Hasting Center Report. 29, 5, 1-23.
  
• Botkin, J., Kodish, E., Nelson, R., (2001).
  Ethical Issues with genetic testing in
  pediatrics. Pediatrics. 107, 6, 1451-1456.
  
• Brown, Dan, M.D. (2006) Overview Genetic
  Research and Clinical Applications. The
  Presidents Council of Bioethics. Thursday,
  November 16, 2006. Retrieved from the Presidents
  Council of Bioethics website http//www.bioethics
  .gov
• Curnow, L., Massie, J., Savarirayan, R. (2003).
  Genetic counseling after carrier detection by
  newborn screening when one parent carries
  DeltaF508 and the other R117H. Achieves of
  Disease in Childhood. 88, 10, 886-892.
• Huxley, Adolph. (1932) Brave New World.
  Perennial Preprint Edition (September 1, 1998)
  
• Kass, Leon. M.D. (2006). Presidents Council of
  Bioethics. Thursday, November 16, 2006. Retrieved
  from the Presidents Council of Bioethics
  website http//www.bioethics.gov
• Kass, Leon. M.D. (2006). In The Puzzle of Leon
  Kass. Copley News Services Washington.
  
• Labcorp, America. (2006). A basic Guide to
  Genetic Testing. Available at www.labcorp.com.
  Retrieved January 10, 2007.
  
• Encarta (2003). Genetics. Microsfot Encarta
  Multimedia Encyclopedia.
  
• Emsemauer, R., Michels, V., Reinke, S. (2005).
  Genetic Testing Practical, Ethical and
  Counseling Considerations. Mayo Clinical
  Proceedings. 80, 1, 63-75.
• Genetics and Public Policy Center. (2005).
  Americans support most uses of reproductive
  genetic testing, report on U.S. attitudes
  reveals. Retrieved January, 12, 1006 from
  http//tools-content.labvelocity.com
• Genetics IVF Institute, Preimplantation genetic
  diagnosis, taken January 13, 2007.file///G/Nursi
  ng202006-07/winter20term/pgd.htm
  
• Green, N., Dolan, S., and Murray, T. (2006).
  Newborn Screening Complexities in Universal
  Genetic Testing. American Journal of Public
  Health. 96, 11.

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• Glannon, Walter. (2005). Genetics. Fischer, John
  M. Biomedical Ethics. (pp. 95-115).New York
  Oxford University Press.
  
• Glover, Jonathon. (2001). Eugentics and Human
  Rights. In Justine Burley (Ed.), The Genetic
  Revolution and Human Rights. (pp. 101-124)
  Oxford Oxford University Press.
• Kalb, C. (2006). Peering Into the Future Genetic
  testing is transforming medicine--and the
  wayfamilies think about their health. As science
  unlocks the intricate secrets of DNA, we face
  difficult choices and new challenges.  Newsweek.
  148, 22, 52.
• Keatins, M. (2000). Ethical and Legal Issues at
  the Extremes of the Life Continuum. Radojkovic,
  L. Ethical and Legal Issues in Canadian Nursing.
  Toronto Elsevier Science Canada. (213-258).
• McKinney, E. et al. (2000). Heredity and
  Environmental Influences on Development.
  
• Schrefer S. (1st ed) Maternal-Child Nursing.
  (186). Philadelphia W.B. Saunders Company
  Munson, Ronald. (2003). Genetic Control.
  Wainwright, S. Outcome Uncertain Cases
• and contexts in Bioethics. (pp. 155-170). Canada
  Thompson Learning.
  
• Reilly, Philip. (2000). Cystic Fibrosis Should
  everyone be tested?. Barker. P. Abraham Lincons
  DNA and other Adventures in Genetics. (pp.
  213-220). New York Cold Spring Harbor Laboratory
  Press.
• Raz, A. (2005). Disability Rights, Prenatal
  Diagnosis and Eugenics A Cross-Cultural View.
  Journal of Genetic Counseling. 14(3). 183-189.
  
• Rosen, A., Wallenstein, S. (2002). Attitudes of
  pediatric resident toward ethical issues
  associated with genetic testing in children.
  Pediatrics. 110, 2, 360-365.
• Wikipedia. (2006). Eugenics. Retrieved January
  12, 2006, from www.wikipedia.org

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Discussion questions

• If you were a newly pregnant woman would you opt
  for prenatal genetic testing? Why? What diseases
  would you want your fetus to be tested for?

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• What is to stop the state from engineering
  perfected humans- void of disease, undesirable
  traits, perfected senses and heightened
  intelligence? Dan Brown, M.D. states that all
  occurrences in life are caused by our genes. A
  car accident is caused by a genetic abnormality,
  (imperfect sight and reactions) and that person
  should be genetically altered. What would this
  mean for the human race?

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• What would happen to our worldview if there was
  no disease, pain, suffering or tragedy? What
  would happiness, health and hope be compared too?