Gene Therapy, Genetic Testing, and Uses of Genetic Information - Case J3

It is several years into the future. Professor Ken Tanaka's studies generalizing the ligand specific polymerase chain reaction, in combination with the wide variety of gene segments now available, have allowed him to develop a ligand-specific chain reaction (LCR) assay that can detect in utero genetic predisposition to almost 200 genetic and congenital conditions. These include:

Tay-Sachs disease

Early onset Alzheimer's disease


Huntington's disease

Diabetes mellitus (types

Cystic fibrosis I and II)

LDL receptor defects

Autoimmune diseases

Congenital adrenal



Essential hypertension

Sickle cell disease

Prof. Tanaka has been approached by a major clinica1laboratory company to license the method. They promise to create a prenatal diagnostic package that for $1,000 will provide information about all of these conditions during the 14th week of gestation from a placental biopsy. The test would provide similar information about newborns using a blood sample.

The company wishes to take advantage of developments in genetics to extend the profile by at least 200 conditions each year. Prof. Tanaka can anticipate testing for 1,000 genes within four years or so.

The financial return to him and the university promises to be enormous, but he has misgivings.


  1. What might be some of Dr. Tanaka's misgivings?
  2. Would your opinion of Dr. Tanaka's assay be different if the test were restricted to newborns?
  3. Does your level of concern with regard to the diagnostic package depend in any way on the conditions for which it would test? If so, why do you feel differently about testing for some genetic or congenital conditions as compared to others? The conditions listed in the case are all diseases and disabilities. What concerns, if any, would you have about using these tests to ascertain gender, sexual orientation, or, constitutional short stature?
  4. Assuming the technology is available to do so, do you believe that there are any conditions for which one should not test? On what basis?
  5. What would be your criteria for determining whether it is ethically or otherwise acceptable to test for a given condition?

Further Discussion:

  1. As the Human Genome Project progresses, much concern has been generated with regard to the potential uses of the genetic information that will inevitably become available. The potential for abuse of genetic information has led some to question whether the Human Genome Project should continue. Discuss whether the potential applications of the knowledge gained through any course of research should serve as grounds for arresting research efforts.
  2. Someone else will shortly develop technologies with a similar capacity to Dr. Tanaka's. How does that affect your thinking?


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