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Chapter 16 - Medical Genetics

from SECTION 2 - MOLECULAR PATHOLOGY

Published online by Cambridge University Press:  04 June 2019

By
Nerine E Gregersen  and
Amanda Krause
Edited by
Barry Mendelow ,
Michèle Ramsay ,
Nanthakumarn Chetty  and
Wendy Stevens
Nerine E Gregersen
Affiliation:
MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand.
Amanda Krause
Affiliation:
MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.
Barry Mendelow
Affiliation:
University of the Witwatersrand, Johannesburg
Michèle Ramsay
Affiliation:
University of the Witwatersrand, Johannesburg
Nanthakumarn Chetty
Affiliation:
University of the Witwatersrand, Johannesburg
Wendy Stevens
Affiliation:
University of the Witwatersrand, Johannesburg
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Summary

INTRODUCTION

As the burden of birth defects is high in middleincome countries like South Africa, clinicians frequently have to care for patients with such conditions. This chapter aims to provide the clinician with a clear understanding of the aims and processes of medical genetics, and how individuals with birth defects should be cared for.

When affected individuals and their families attend a genetic clinic, they usually want answers to five questions:

  • What is it?

  • What caused it?

  • What does it mean in terms of care?

  • Will it happen again?

  • Can it be prevented?

    • The care of individuals with birth defects is accomplished by providing information that answers these questions. In addition, it is necessary to provide psychosocial support while individuals and families come to terms with the information and make medical, social and reproductive decisions.

    PROVIDING INFORMATION

    Making a diagnosis: ‘What is it?’

    Making a diagnosis in a person with a birth defect is often challenging. An exact diagnosis allows for calculating accurate recurrence risks in a family, and this should be conveyed during genetic counselling. As with any medical problem, making a diagnosis depends on taking a history, doing an examination, and performing relevant investigations. Within each activity, ‘genetically’ orientated details will apply.

    History

  • • The family history should note particular aspects such as similarly affected individuals, individuals with different but linked signs and symptoms, possible patterns of inheritance, consanguinity, previous mis - carriages, stillbirths, and abnormal and/or intellectually impaired individuals.

  • • Pregnancy history should include information about age, maternal illnesses, maternal medication use in pregnancy, and pregnancy-related events that could result in birth defects such as maternal infections or teratogen exposure (for example alcohol).

  • • Birth history must be detailed and complete, and include birth parameters.

  • • Medical progress should note problems such as growth abnormalities (over growth or restricted growth), failure to thrive, seizures, cardiac or other organ dysfunction, recurrent infections and feeding difficulties. In adult-onset conditions, age of onset of symptoms is important.

    • Type
    Chapter
    Information
    Molecular Medicine for Clinicians
    , pp. 194 - 202
    Publisher: Wits University Press
    Print publication year: 2008

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    • Medical Genetics
      • By Nerine E Gregersen, MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand., Amanda Krause, MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.
    • Edited by Barry Mendelow, University of the Witwatersrand, Johannesburg, Michèle Ramsay, University of the Witwatersrand, Johannesburg, Nanthakumarn Chetty, University of the Witwatersrand, Johannesburg, Wendy Stevens, University of the Witwatersrand, Johannesburg
    • Book: Molecular Medicine for Clinicians
    • Online publication: 04 June 2019
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    • Medical Genetics
      • By Nerine E Gregersen, MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand., Amanda Krause, MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.
    • Edited by Barry Mendelow, University of the Witwatersrand, Johannesburg, Michèle Ramsay, University of the Witwatersrand, Johannesburg, Nanthakumarn Chetty, University of the Witwatersrand, Johannesburg, Wendy Stevens, University of the Witwatersrand, Johannesburg
    • Book: Molecular Medicine for Clinicians
    • Online publication: 04 June 2019
    Available formats
    ×

    Save book to Google Drive

    To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

    • Medical Genetics
      • By Nerine E Gregersen, MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand., Amanda Krause, MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.
    • Edited by Barry Mendelow, University of the Witwatersrand, Johannesburg, Michèle Ramsay, University of the Witwatersrand, Johannesburg, Nanthakumarn Chetty, University of the Witwatersrand, Johannesburg, Wendy Stevens, University of the Witwatersrand, Johannesburg
    • Book: Molecular Medicine for Clinicians
    • Online publication: 04 June 2019
    Available formats
    ×