AKC 4 T&RS – Autumn Term 2008 – Ethical perspectives from Bioscience 23/10/08

AKC 4 – 23 OCTOBER 2008

ISSUES IN DIAGNOSIS, OLD AND NEW

PROF PETER GAHAN, DEPARTMENT OF BIOMEDICAL SCIENCE

A new approach in medical diagnosis concerns the use of predictive medicine to permit preventive medicine that, in turn, can lead to a personalized medicine. This approach involves:

  • developing methods that will allow the early detection of medical conditions that can be seen through changes in cells at the molecular level.
  • exploiting such early changes so that we should be able to treat a medical condition at its inception and so have a successful outcome as opposed an unsuccessful or less successful outcome due to the patient presenting late when the condition is at an advanced stage when it is more difficult to treat.

Three basic approaches will be briefly discussed, namely:

  • Proteomics: the study of all of the proteins present in a cell and their involvement in the cell processes in health and disease.
  • Functional genomics: includes gene and protein functions and interactions, the dynamic aspects of transcription and translation and protein-protein interaction.
  • circulating nucleic acids.

These approaches permit the laying down of base-lines for patients, possibly even from birth, so that with subsequent monitoring, it should be possible to build a complete picture of the normal molecular arrangement within a cell and then be able to pick up any changes from the norm that are known to be linked to a particular subsequent condition. In this way, there can be an early intervention by the doctor, or, the person can modify their life-style in response to the information in order to reduce the impact of the condition.

When this approach becomes routine, there will be a number of ethical and legal problems to face including:

  • safe storage of the patient’s data,
  • the right of access to the data,
  • a patient’s “right to know”,
  • the financial impact on the health service –who pays?
  • the impact on the patient’s access to insurance.

Glossary:

Chromosome / structure contained in the nucleus and comprised of a strand of DNA together with some protein, RNA and lipid.
DNA / deoxyribonucleic acid (made of deoxyribose sugar, phosphate and nitrogen bases cytosine, guanine, adenosine and thymine). Forms the genes which contain the information to make an individual and individual proteins.
RNA / ribonucleic acid (made of ribose sugar, phosphate and nitrogen bases cytosine, guanine, adenosine and uracil).
Protein / a chain of amino acids folded into a three-dimensional structure to give its biologically active form.
Transcription / the process of transferring information from the DNA into messenger-RNA which acts by conveying the information from the nucleus wherein lies the DNA to the cytoplasm where proteins are made.
Translation / the use of the information contained in the messenger-RNA to make protein in the cytoplasm.
Apoptosis / the process by which, on receiving a particular signal, a cell will literally commit suicide.

Table 1. Presence of DNA and RNA in blood from patients with various disorders.
YEAR MARKER DISORDER
1966 DNA amount SLE
1999 DNA amount fetal serum
2003 DNA amount stroke
2003 DNA amount trauma
2003 DNA amount myocardial infarction
2004 RNA amount trauma
2004 DH exons 4,5,10 Rh status
2005 hypomethylated DNA pre-eclampsia
2006 ß-globulin gene pre-eclampsia
2006 SRY gene pre-eclampsia
2005 ACTH pre-eclampsia
2005 fetal DNA ß-thalassemia
2008 fetal SNPs ß-thalassemia
2006 rhodopsin mRNA diabetic retinopathy
2006 RPE65 mRNA diabetic retinopathy
2006 retinoschisin mRNA diabetic retinopathy
2006 enolase mRNA diabetic retinopathy
2007Bmi-1 mRNA breast cancer
2008PLAC4 gene Down’s syndrome
2008 DNA fetal sex
2008 amelogenin gene fetal sex
2008 multicopy DAZ fetal sex
2008 HSD type I hypertension
2008 HSD type II hypertension

Suggested further reading

Predictive Diagnostics & Personalized Medicine: Dream or Reality? Edited by O. Golubitschaja, Nova Science Publishers, Inc. (to be published December 2008 – January 2009)
Relevant chapters:

  1. ‘Circulating Nucleic Acids in Plasma and Serum: Roles in Diagnosis and Prognosis’, P. B. Gahan
  2. ‘Knowledge transfer and patenting strategy in predictive medicine’, K. Kruber and J. Walkenhorst
  3. ‘Information systems as an essential component of prediction in the laboratory diagnostics’, M. Kapalla and D. Matu_ková
  4. ‘Economic aspects and the role of insurance in predictive diagnostics’, W. R. Stahel and C. Courbage

Full details about the AKC course, including copies of the handouts, can be found on the AKC website at: If you have any queries please contact the AKC Course Administrator (ext 2333 or email at ). The AKC Examination will take place on Friday 27 March 2009 between 14.30 and 16.30.

YOU MUST REGISTER FOR THE COURSE using the form on the website. You will need to register for the exam separately, information will be provided next semester.

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