Rapid responses are electronic comments to the editor. They enable our users
to debate issues raised in articles published on bmj.com. A rapid response
is first posted online. If you need the URL (web address) of an individual
response, simply click on the response headline and copy the URL from the
browser window. A proportion of responses will, after editing, be published
online and in the print journal as letters, which are indexed in PubMed.
Rapid responses are not indexed in PubMed and they are not journal articles.
The BMJ reserves the right to remove responses which are being
wilfully misrepresented as published articles or when it is brought to our
attention that a response spreads misinformation.
From March 2022, the word limit for rapid responses will be 600 words not
including references and author details. We will no longer post responses
that exceed this limit.
The word limit for letters selected from posted responses remains 300 words.
Editor - Knight and Flint advocate 'investigating telomeres in all
patients with moderate to severe learning disability who have the clinical
features described, especially those who have affected family members'.1
The justification for this statement appears to be that 'making a
diagnosis is important in caring for the child and it is important for the
family and society'. This statement slips in to the argument as an
apparent truth; no evidence to support the statement is given.
Muir Gray has pointed out that 'All screening programmes do harm; some can
do good as well'.2 Leaving aside for one moment the harm that might be
caused by screening telomeres (labelling, insurance, anxiety etc); we have
vital questions around exactly what good we are doing and for whom? Does
society gain economically or socially? Do families gain benefit from
reproductive choice that a positive test result may impart? Is there
increased reproductive benefit or choice when a family tests negative for
a chromosomal abnormality? Is the management of a child improved because
we know the underlying defect? Knight and Flint have ignored these
fundamental questions in their discussion of screening chromosome ends.
Learning disability has long been a Cinderella subject. Many people argue
that the care programs in place for children with learning disability have
suffered from years of under investment. It is essential that we know the
benefits outweigh the harms in this proposed screening program before
using resources that might be better used supporting all learning-disabled
children fulfil their potential and live a full and active life.
On a more general issue, Muir states, 'The decision to introduce a new
screening programme should be taken as carefully as the decision to build
a new hospital'. We are entering an exciting period in the history of
genetics. The human genome is laying open its secrets. Each week new
genetic markers of disease are identified. Let us remember that there are
many more important screening decisions waiting on the sidelines; each and
every one of which has the potential to do harm. Let's not start jumping
the gun. We must have evidence that our screening programmes will do more
good than harm before they are started.
C A Weiner (Specialist Registrar in Public Health, West Midlands)
A. Burls (Senior Clinical Lecturer in Public Health and Epidemiology,
West Midlands)
Reference:
1. Knight J L, Flint J. Screening chromosome ends for learning
disability. BMJ 2000;321:1240
2. Muir Gray J A. Evidence-based healthcare- How to make health
policy and management decisions. 1999, Churchill Livingstone.
Screening chromosome ends.
Editor - Knight and Flint advocate 'investigating telomeres in all
patients with moderate to severe learning disability who have the clinical
features described, especially those who have affected family members'.1
The justification for this statement appears to be that 'making a
diagnosis is important in caring for the child and it is important for the
family and society'. This statement slips in to the argument as an
apparent truth; no evidence to support the statement is given.
Muir Gray has pointed out that 'All screening programmes do harm; some can
do good as well'.2 Leaving aside for one moment the harm that might be
caused by screening telomeres (labelling, insurance, anxiety etc); we have
vital questions around exactly what good we are doing and for whom? Does
society gain economically or socially? Do families gain benefit from
reproductive choice that a positive test result may impart? Is there
increased reproductive benefit or choice when a family tests negative for
a chromosomal abnormality? Is the management of a child improved because
we know the underlying defect? Knight and Flint have ignored these
fundamental questions in their discussion of screening chromosome ends.
Learning disability has long been a Cinderella subject. Many people argue
that the care programs in place for children with learning disability have
suffered from years of under investment. It is essential that we know the
benefits outweigh the harms in this proposed screening program before
using resources that might be better used supporting all learning-disabled
children fulfil their potential and live a full and active life.
On a more general issue, Muir states, 'The decision to introduce a new
screening programme should be taken as carefully as the decision to build
a new hospital'. We are entering an exciting period in the history of
genetics. The human genome is laying open its secrets. Each week new
genetic markers of disease are identified. Let us remember that there are
many more important screening decisions waiting on the sidelines; each and
every one of which has the potential to do harm. Let's not start jumping
the gun. We must have evidence that our screening programmes will do more
good than harm before they are started.
C A Weiner (Specialist Registrar in Public Health, West Midlands)
A. Burls (Senior Clinical Lecturer in Public Health and Epidemiology,
West Midlands)
Reference:
1. Knight J L, Flint J. Screening chromosome ends for learning
disability. BMJ 2000;321:1240
2. Muir Gray J A. Evidence-based healthcare- How to make health
policy and management decisions. 1999, Churchill Livingstone.
Competing interests: No competing interests