Excellent source of genetic information published

The Genetic Alliance (http://www.geneticalliance.org), an organization that helps advocacy groups magnify their efforts to help people with genetic diseases, announced the publication of Understanding Genetics: A Guide for Patients and Health Professionals in collaboration with the District of Columbia Department of Health.

The chapters are clearly outlined on the website and are downloadable. The Appendix, in particular, caught my eye in regards to genetic testing. One section defines three types of genetic testing and explains each. The conclusion of the section was particularly compelling for me:

For some genetic diseases, many different mutations can occur in the same gene and result in the same disease, making molecular testing challenging. For example, more than 800 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) can cause cystic fibrosis (CF). It would impractical to sequence the entire CFTR gene to identify the causative mutation since the gene is quite large. However, since the majority of CF cases are caused by approximately 30 mutations, this group of mutations is first tested before more comprehensive testing, such as sequencing, is performed.

I have often seen cystic fibrosis included in a list of diseases "caused" by a single gene. This information puts a different light on the seeming simplicity of the situation.

Check out the publication for an excellent collection of genetic information. I'd like to hear what you think.

Marie Godfrey, PhD

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