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Saturday, 17 November 2007

Clinical genetics for professionals: useful resources links

http://www.kumc.edu/gec/prof/genewww.html

Genetics for patients and public: what I should know about genetics?

The answer of the question depends on individuals.

If you are a patient, you might want to know about:
-Is it a genetic disorder? Even I am the only one affected in my family.
-Who and where I should go for genetic service?
-Which tests can confirmed or make a diagnosis?
-Do my children take any risk to develop such a genetic disorders?
-etc.

If you are a relative of affected family member, you may want to asked someone about:
-Do my father or my mom has a genetic disorder?
-Do I take any risk to develop such a genetic disorders?
-If it is likely to occur, can I prevent or cure that disease?
-etc.

There are millions of web-based resources and many are devoted for patient information. How can I choose one from them? If you go to the popular search engine like Google, you will easily end up with massive unrelated informations about genes, genomes, genetic diseases, cloning, stem cells, ... .

So these are some recommendations for effectively search through the ocean of informations:
If you have an establish diagnosis, you could go for the disease support groups first.
: There are a lot of support groups working in helping and guiding the patients and families suffered with various diseases. They usually provided useful background knowledge about the disease and management, and they often provided linked to the most relevant web-links. Even the disease is very extremely rare, you can start with support group for the rare disorders that may give you an overview about genetics, and service.

If you suspect that your or your family mamber's health-related condition is caused from genetic component, you may start with directories. These will give you the information about where and who you should contact in your regions. Professions who care or deal with that problems are namely: clinical geneticists, genetic counselors, genetic nurses.

Genetics for patients and public: what is genetic disorders?

Genetic disorders are diseases caused in whole or in part by a variation or alteration of genes.

As we unlocks the secret of human genome (all contents of genes), we know that nearly all diseases have a genetic component. Some including cancers are cause by alteration in a gene or a group of genes in the cells of individuals.

Other genetic disorders are hereditary - such as Huntington's disease, Marfan syndromewhere a mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease.

But most genetic disorders are "multifactorial inheritance disorders," meaning they are caused by a combination of small variations in genes, often in concert with environmental factors.

Who work with clinical geneticists?

Genetic counsellors
Genetic counsellors have a background in nursing or science with specialist clinical genetic training.
They may hold their own clinics with support and advice from consultants, for which consultant
time should be allocated.
Laboratory genetic services
The clinical team works closely with molecular genetic and cytogenetic laboratory staff, especially
concerning the indications for, and interpretation of, extremely specialised genetic tests, which may
need to be tailored specifically to a particular family’s clinical problem. Joint clinical and laboratory
meetings are held to review case management.
Other specialists
Many genetic units hold multidisciplinary clinics and meetings with other specialties such as
radiology, fetal medicine, oncology, neurology, nephrology, paediatric specialties, ophthalmology
and cardiology.

Issues for Genetic couseling

Non directive counseling
Pedigree analysis
Accurate diagnosis
Knowledge about disease
Truthfulness
Concern for individual
Risk assessment
Discussion about the risk
Discussion about disease and etiology
Reproductive options
Communication skills
Confidentiality
Management options
Help patients to make decisions
Psychosocial support
Support groups

First impression


Picture show examples of some kind of informations that clinical geneticists have to deal with.
DNA sequence pictogram

Genetic disorders

Genetic disorders
1. Single gene disorders
2. Mitochondrial disorders
3. Chromosomal disorders
4. Multifactorial disorders

Medical genetics

Medical genetics - application of genetic knowledges for medical purpose

Clinical genetics- branch of medicine dealing with evaluation, diagnosis, treatment and prevention of patients and family with genetic disorders

Clinical geneticist- doctors who care for patients and families with genetic disorders

Genetic Testing

Genetic Testing
1. Biochemical Testing - metabolites
2. Molecular Testing - DNA, RNA
3. Cytogenetic Testing - chromosome
Slide Show