The recent discovery of the gene that causes PJS has made it more possible to provide genetic testing for diagnosing the syndrome in potential patients and families. Because there are limitations currently to the testing methods, it is not possible to always obtain a conclusive result. Somewhere down the road this may change. The choice to have or to forego genetic testing is purely a personal decision and has no right or wrong answer that fits everyone.
Directories of Professionals
Genetics for Everyone
Genetics Geared Towards the Professional
National Society of Genetic Counselors
The National Society of Genetic Counselors offers a searchable database for the general public to locate genetic counselors near to where they live. An international search is available.
National Cancer Institute Genetics Services Directory
The National Cancer Institute maintains a directory of professionals who provide services related to cancer genetics, including cancer risk assessment, genetic counseling, genetic susceptibility testing, and others. Professionals apply to be on the list.
GeneDx: DNA Diagnostic Tests
GeneDx DNA Diagnostic Services offers mutation testing in rare disorders for the purpose of diagnosis, carrier detection, and prenatal testing.
DNA From the Beginning
DNA From the Beginning organizes their information around key concepts which are explained by animation, image gallery, video interviews, problem, biographies, and links. Information is given in lay person's terms.
Genetic Alliance
Through various programs, the Genetic Alliance brings genetics information to a more personal level to help patients and their support networks.
Aetna InteliHealth Genetic Testing
Aetna InteliHealth features Harvard Medical School's Consumer Health Information. This particular link helps the lay person learn about genetic testing in a user-friendly environment.
Gene Gateway - Exploring Genes & Genetic Disorders
The Gene Gateway is funded by the U.S. Department of Energy Biological and Environmental Research program. It offers information from the Human Genome Project, putting it in language a lay person can understand.
PBS: Our Genes/Our Choices
PBS offers thought provoking insights into genetics, urging us to become informed and form opinions.
NIH Office of Rare Diseases
The NIH Office of Rare Diseases offers information on over 6,000 rare diseases. Information on the diseases, treatments, studies, etc is kept current.
The NAP
The National Academies Press offers Who Will Keep the Public Healthy? Educating Public Health Professionals for the 21st Century (2003) in a searchable format called "Open Book."
Genetics Geared Towards the Professional
Hum-Molgen Bulletin Board
Researchers at UT Southwestern discover link between gene in rare disorder and growth factor -- "Researchers ... have discovered a previously unknown connection between Lkb1, a tumor-suppressor gene associated with a rare genetic disorder called Peutz-Jeghers syndrome, and vascular endothelial growth factor (VEGF), a key regulator of blood vessels..."
GeneTests
GeneTests is publicly funded, offering medical genetics information resources to healthcare professionals, researchers, and all interested persons at no charge.
Nature Reviews
Nature Reviews Genetics maintains a publication online that can be subscribed to. Featured articles generally have free access. Summaries of all articles are free. Aimed for the medical professional.
Email
Update: 13.Jan.'04