Would you Want to Find out About …?

DNA autoradiogram

Would you Want to Find out About an Inherited Genetic Condition?
12 February 2014

This week’s Health Check is a special programme about living with genetic disorders.
Speaking to contributors to the book The Story Within, Claudia discusses the impossibly difficult decisions that arise – whether, when and how to intervene and whether and how best to involve family members – and how life can be irrevocably changed by the discovery of a family history of genetic mutation.

To guide Claudia through the issues raised and examine the extraordinary advances being made in genetics, she is joined by Sir John Burn. He is professor of Clinical Genetics at Newcastle University and a world authority on genetics.

Life is a sexually transmitted, ultimately fatal disorder.

Fragile X

Use of a multiaxial diagnostic system in clinical genetics

Use of a multiaxial diagnostic system in clinical genetics
Genetics in Medicine (2002) 4, 95–96

a multiaxial diagnostic system (MADS) in clinical genetics3 similar to the DSM-III-R system used in psychiatry.
I thought this was important as the clinical diagnoses, and even the ICD codes, were a mixture of etiologic, pathogenetic mechanisms and phenotypic diagnoses.
For simplicity, only four major categorical axes were defined:
I, Phenotypic;
II, Pathogenetic;
III, Etiologic
IV, Differential Diagnoses

The major advantages of such a system included:

  • improved diagnostic accuracy;
  • greater reliability and homogeneity of the diagnostic categories, enhancing the comparison of diagnoses and achievements between different centers, states, regions, or countries;
  • more comprehensive and specific definitions for controversial terms such as “syndrome” or “spectrum”; and
  • its use for educating health professionals.

Research Interests: analysis of high-dimensional data
Teaching: Topics in High Dimensional Data Analysis (STAT:7190)