Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Screening for genetic disorders: need to avoid anxiety

16.12.2004


People screened for genetic disorders must have appropriate follow-up and monitoring to avoid stress and anxiety, according to new research sponsored by the ESRC.

Those with a condition may also find it difficult to have their disease diagnosed and treated satisfactorily, and there can be surprisingly little or no access to genetic counselling. These are among the key issues identified in a unique three-year project led by Professor Paul Atkinson of Cardiff University, examining the consequences of genetic screening. It calls for urgent attention to these issues from health policymakers and planners.

Focusing on the disorder Genetic Haemochromatosis, the research team followed up otherwise healthy blood donors whose blood was tested as part of a study by Cardiff haematologists, and who were identified as susceptible to the disorder. Haemochromatosis causes the body to absorb an excessive amount of iron from food, and this can lead to damage to the liver and other body tissues.



The research found that identifying individuals as being at risk does not automatically mean that other potentially vulnerable members of the family will be alerted. People picked out as being at risk, but who did not yet have any symptoms, were not unduly anxious about their health, provided they felt they were being monitored and looked after. As a result, they often did not feel the need to pass on information about the condition to blood relatives who might also be at risk.

The study reveals that the risk status of individuals can be fraught with uncertainty. Identifying the gene does not predict with any degree of certainty whether full-blown symptoms will ever develop or, if they do, their severity or timing of onset. Professor Atkinson said: “Since the genetic science is still in its infancy, population screening exposes people to tentative projections of risk without giving them anything definite to go on.”

Screening for individuals who are at risk results in simple forms of medical management of the condition, including periodic bleeding to reduce the overload of iron. But there may be a more complex and expensive consequence for health services if such people need continuing support and advice. Professor Atkinson said: “Population screening can create a considerable burden of counselling and follow-up for primary and secondary health care services.” He warned that as population screening becomes available for an increasing variety of medical conditions, this burden will have to be assessed and costed very carefully. “The costs will be considerable, and may not be the best use of resources, which may be better directed to good diagnosis of the clinical condition”, he said.
Researchers also interviewed people with full-blown clinical Haemochromatosis, and members of the Haemochromatosis Society, which provides support and information for those affected by the disorder.

They found that, in contrast to the screened individuals, people with the symptoms of the condition had often experienced considerable difficulty in receiving an accurate diagnosis and suitable treatment from their general practitioner.

Professor Atkinson added: “There is a clear need for better diagnosis for those who develop the clinical symptoms who, if untreated, can suffer serious damage to their health. Because Genetic Haemochromatosis is relatively uncommon, GPs are not necessarily well equipped to recognise the symptoms of the disease for what they are.”

Becky Gammon | alfa
Further information:
http://www.esrc.ac.uk

More articles from Health and Medicine:

nachricht 'Living bandages': NUST MISIS scientists develop biocompatible anti-burn nanofibers
16.02.2018 | National University of Science and Technology MISIS

nachricht New process allows tailor-made malaria research
16.02.2018 | Eberhard Karls Universität Tübingen

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

Im Focus: Autonomous 3D scanner supports individual manufacturing processes

Let’s say the armrest is broken in your vintage car. As things stand, you would need a lot of luck and persistence to find the right spare part. But in the world of Industrie 4.0 and production with batch sizes of one, you can simply scan the armrest and print it out. This is made possible by the first ever 3D scanner capable of working autonomously and in real time. The autonomous scanning system will be on display at the Hannover Messe Preview on February 6 and at the Hannover Messe proper from April 23 to 27, 2018 (Hall 6, Booth A30).

Part of the charm of vintage cars is that they stopped making them long ago, so it is special when you do see one out on the roads. If something breaks or...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Fingerprints of quantum entanglement

16.02.2018 | Information Technology

'Living bandages': NUST MISIS scientists develop biocompatible anti-burn nanofibers

16.02.2018 | Health and Medicine

Hubble sees Neptune's mysterious shrinking storm

16.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>