Prevalence of Genetic Conditions / Birth Defects

A variety of references

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

Infant deaths

3-5% of all births result in congenital malformations (Robinson A. and Linden MG. 1993. Clinical Genetic Handbook, Boston, Blackwell Scientific Publications)

20-30% of all infant deaths are due to genetic disorders (Berry RJ, Buehler JW, Strauss LT, et al. 1987. Birth weight-specific infant mortality due to congenital abnormalities, 1960 and 1980. Public Health Report 102:171-81)

30-50% of post-neonatal deaths are due to congenital malformations (Hoekelman RA, Pless IB. 1988. Decline in mortality among young American during the 20th century: Prospects for reaching national mortality reduction goals for 1990. Pediatrics 82:582-95)

Hospital admissions

11.1% of pediatric hospital admissions are for children with genetic disorders and 18.5% are children with other congenital malformations (Scriver CR, Neal JL, Saginur R, and Clow A. 1973. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Canadian Medical Association Journal 108:1111-15

12% of adult hospital admissions are for genetic causes (Emery AEH, Rimoin DL. 1990. Principles and Practice of Medical Genetics, Second Edition. New York, Churchill Livingstone)

Prevalence and Patterns of Presentation of Genetic Disorders in Pediatric Emergency Room (.pdf) PKumar, Mayo Clin Proc 2001(76):777-83

Mental retardation

50% of mental retardation has a genetic basis (Emery and Rimoin, 1990)

Chronic adult diseases

15% of all cancers have an inherited susceptibility (Schneider KA. 1994. Counseling about Cancer: Strategies for Genetic Counselors. Dennisport, Massachusetts, Graphic Illusions)

10% of the chronic diseases (heart, diabetes arthritis) which occur in the adult populations have a significant genetic component (Weatherall DJ. 1985. The New Genetics and Clinical Practice, Second Edition. Oxford: Oxford University Press

10% of the chronic diseases (heart, diabetes arthritis) which occur in the adult populations have a significant genetic component (Weatherall DJ. 1985. The New Genetics and Clinical Practice, Second Edition. Oxford: Oxford University Press

International Prevalence:

Robert Brent, "Estimated Incidences of Genetic Disorders Recessive (0.1%), AD and X-linked (1%), Irregularly inherited (9%), Chromosomal aberrations (0.6%)" -- from the Advisory committee on the Biological Effects of Ionizing Radiation. The Effects on Populations of Exposure to Low Levels of Ionizing Radiation. Washington DC, NR Council, NAS, National Academy Press, 1980

Schriver, Beaudet, Sly, and Valle. The Metabolic and Molecular Bases of Inherited Disease", Chapter one

World Health Organization Executive Report 1997 - information on frequency of genetic diseases, birth defects worldwide, Disease Statistics, 1999

Frequency of Inherited Disorders Database, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff

National Perinatal Statistics and Leading Categories of Birth Defects, Description of Leading Causes of Birth Defects / Impact, March of Dimes

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

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

3-5% of all births result in congenital malformations (Robinson, Linden, 1993)
0.5% of all newborns have a chromosomal abnormality (Robinson, Linden, 1993)
7% of all stillborns have a chromosomal abnormality (Robinson, Linden, 1993)
20-30% of all infant deaths are due to genetic disorders (Berry, et al, 1987)
30-50% of post-neonatal deaths are due to congenital malformations (Koekelman, Pless, 1998)

Children and Adults (age 1 and above)

11.1% of pediatric hospital admissions are for children with genetic disorders (Scriver, et al, 1973)
18.5% of pediatric hospitalizations are for children with congenital malformations(Scriver, et al, 1973)
50% of individuals found to have mental retardation have a genetic basis for their disability (Emory, Rimoin, 1990)
12% of adult hospital admissions are for genetic causes (Emory, Rimoin, 1990)
15% of all cancers have an inherited susceptibility (Schneider, 1994)
10% of the chronic diseases (heart, diabetes, arthritis) which occur in the adult populations have a significant genetic component (Weatherall, 1985)

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:

Down syndrome (1/600 live births and increases with advanced maternal age)
Pregnant and age 35 or above (risk of chromosome aneuploidy)
Cystic Fibrosis (1/2500 Caucasian Americans)
Fragile X syndrome (1/1,000 males and 1/800 female carriers of which 30% will be mentally retarded)
Sickle cell disease (1/500 of African American births)
Hemophilia - Factor VIII Deficiency (48/100,000 male births)
Duchenne muscular dystrophy (200/million male births)
Hemochromatosis (1/450 individuals)
Breast cancer (1/8 women of which 5-10% of will have a genetic predisposition)

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

Down's syndrome, estimated lifetime costs for child with Down Syndrome is nearly $500,000, Florida Birth Defects Registry, 1999

Spina Bifida

Spina bifida, estimated lifetime cost for a child with spina bifida is over $300,000, Florida Birth Defects Registry, 1999
Spina bifida, lifetime cost of care of a child with spina bifida at around $250,000 - $300,000; February 2000, article in the journal Tetratology (based on data from 1992).

Cystic Fibrosis

Cystic Fibrosis, lifetime cost of care for a CF patient of just over $1,000,000, United Kingdom

Genetic Conditions / Birth Defects Information
National organizations information on genetic conditions or birth defects

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