PubMed · 4699279
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H C Soltan. 1973-04-21. PKU screening.. https://pubmed.ncbi.nlm.nih.gov/4699279/
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Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.
The two types of neurofibromatosis are NF-1 and NF-2. Both cause abnormal cell growth in the central and peripheral nervous system. Each disease is inherited as an autosomal dominant trait, thus each child of an affected parent has a 50% chance of inheriting the disorder. Because there is no cure for either type of NF and treatment consists of amelioration of clinical symptoms, genetic counseling is the only preventive approach to this disease.
Advances in genetics, including mapping the human genome, improved therapy for genetic disorders, recognition of the role of genetic factors in common diseases of adulthood, and new screening tests for carrier detection and presymptomatic diagnosis create an increased demand for and awareness of clinical genetic services. These services, focusing on diagnosis, management, and genetic counseling, had been supported by a variety of state, provincial, federal, and foundation grants. As clinical genetics has evolved from a service with roots in research provided solely at academic medical centers to one widely available in the community, the services in the United States are increasingly provided on a fee-for-service basis in various settings including private hospitals, state-supported outreach clinics, and free-standing genetics centers, whereas in Canada they are generally based in university hospital settings and are covered by universal health care. Given the limited numbers of clinical geneticists and genetic counselors now practicing, much of the application in this decade of new genetic technologies and knowledge will fall upon primary care physicians.