Prevalence of Genetic Conditions / Birth Defects

A variety of references

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Though individual genetic disorders are rare, collectively they comprise over 15,500 recognized genetic disorders (McKusick VA. 1994. Mendelian Inheritance in Man: A Catalog of Human Genetics and Genetic Disorders, 11th Edition. Baltimore: The Johns Hopkins University Press [OMIM current statistics, Morbid Map (conditions linked to chromosome loci)] and Borgaonkar DS. 1994. Chromosomal Variation in Man. 7th Edition. New York: Wiley-Liss) and affect 13 million Americans

infants | hospital admissions | mental retardation | chronic adult | national / international prevalence | referrals

Infant deaths

Hospital admissions

Mental retardation

Chronic adult diseases

International Prevalence:

Considerations for Determining Prevalence of Managed Care Enrollees with Genetic Risks/Diagnoses

Infants and Infant Deaths (Parents would be candidates for a genetic referral):

Children and Adults (age 1 and above)

Another possibility for estimating members who may benefit from genetic services would be to consider the more common diagnoses, or reasons for referral, and estimate the prevalence of enrollees with, or at risk of, these conditions based on known incidence figures. For example:

One could apply these figures to the enrolled population to generate prevalence estimates for clients enrolled in a managed care plan. For example, assuming an enrolled population of 55,000, and that one half are female members, and recognizing the incidence of breast cancer of 1/8, an estimated 3400 members will develop breast cancer and 170-340 of these individuals will have a genetic basis for their disease. Their predisposition could be identified through a detailed family history obtained through a genetic evaluation and those high risk families may benefit from genetic testing for the known breast cancer genes

- compiled by Debra Doyle, MS, CGC, dld2303@HUB.DOH.WA.GOV


Lifetime Cost of Care References

Down Syndrome

Spina Bifida

Cystic Fibrosis


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To locate a genetic counselor or clinical geneticist in your area:

Link that takes you to the Genetic Support Groups  Link that takes you to the Genetic Professional Home Page  Link that takes you to the Genetics Education Center Home

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Debra Collins, M.S. CGC, Genetic Counselor,


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