Prevalence and Incidence of Genetic Diseases
by: Rea Shane Yonzon
The frequency of a particular genetic disease can be described based upon its prevalence and incidence in a population. Prevalence refers to the proportion of individuals who have a health condition at one point in time while incidence refers to the number of new cases during a specific period of time.
A systematic survey of literature on rare diseases by Orphanet is presented in Table 1. The list is shortened to include only diseases featured in this site. If neither incidence nor prevalence data is available, as the case on very rare diseases, the number of cases or families are indicated. This report by Orphanet is updated biannually.
Table 1. Prevalence, incidence, or number of published cases listed by featured diseases (updated January 2022)
Published figures are worldwide, unless specified. An asterisk (*) indicates European data. P = prevalence, I = incidence, and BP = birth prevalence.
The figures on this list are estimates and cannot be considered as absolutely correct. The estimation does not take into account the variable methods employed by studies in the literature survey.
On the other hand, a global report on birth defects conducted by the March of Dimes (MoD) in 2006 showed an estimated prevalence of congenital disorders as 52.9 per 1000 live births. This is further detailed according to its cause (Table 2).
On the other hand, a global report on birth defects conducted by the March of Dimes (MoD) in 2006 showed an estimated prevalence of congenital disorders as 52.9 per 1000 live births. This is further detailed according to its cause (Table 2).
Table 2. Prevalence of congenital disorders by cause
In the Philippines, genetic tests and services are made available for the whole country by a few government and private institutions. The Institute of Human Genetics, National Institutes of Health (IHG‐NIH) of the University of the Philippines (UP) Manila has received 14,687 peripheral blood samples from 1991 to 2015. Out of these, 5117 (34.8%) cases showed abnormality: 482 sex chromosomal numerical abnormalities, 48 sex chromosomal structural abnormalities, 4051 autosomal numerical abnormalities and 536 autosomal structural abnormalities. The details are presented in Table 3.
Table 3. Chromosomal abnormalities reported at the Cytogenetics Laboratory, IHG‐NIH (1991–2015)
Currently, there is very limited data regarding the prevalence and incidence of genetic diseases in the Philippines. And so, most reports on this site are based on international studies. For more details on the frequency of each genetic disease, refer to our list of featured diseases.
REFERENCES:
[1] Orphanet. (2022). Prevalence of rare diseases by alphabetical list: bibliographic data. Orphanet report series, rare diseases collection. https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
[2] Padilla, C. D., & Cutiongco‐de la Paz, E. M. (2016). Genetics and genomic medicine in the Philippines. Molecular genetics & genomic medicine, 4(5), 494. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023934/
[3] Noordzij, M., Dekker, F. W., Zoccali, C., & Jager, K. J. (2010). Measures of disease frequency: prevalence and incidence. Nephron Clinical Practice, 115(1), c17-c20. https://pubmed.ncbi.nlm.nih.gov/20173345/