Essays on Science and SocietyGenome-Sequencing Anniversary

Human Genome Sequencing: Celebrating 10 Years

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Science  18 Feb 2011:
Vol. 331, Issue 6019, pp. 873
DOI: 10.1126/science.1203266

The sequencing of the human genome has had a significant impact on pediatric practice in the Arab region (the 23 states of the Arab league). It has facilitated research into the identification of genes of single-gene disorders, particularly the autosomal recessive type, which are a major cause of infant mortality, morbidity, and handicap in Arab countries. Of the 955 genetic diseases described in Arabs, 60% (586) are caused by recessive genes.

CREDIT: MITCHELINE PELLETIER/PEDIATRIC GENETIC CLINIC, AL-AIN

The information obtained from the human genome, coupled with the high level of consanguinity (25 to 60%) and large family sizes in this region, has provided the perfect opportunity to identify the genes of recessive disorders via homozygozity mapping and DNA sequencing. The CTGA database, curated by the Center for Arab Genomic Studies, indicates that more than 60 recessive genes were identified, mostly during the past 10 years, in families from this region. Undoubtedly, these studies contributed to genome annotation and to unraveling the extent of genome variability. In addition, molecular characterization of well-described phenotypes in large families from this region will also, it is hoped, reveal genes that underlie complex and heterogeneous conditions.

Despite recent progress, many recessive disorders in the Arab region are still not studied. At present, 36% of the genetic disorders reported in this region are only known as clinical observations. We expect that the molecular causes of the vast majority will be resolved within the next few years. This will result in a high-value knowledge base and will have direct implications on genetic counseling, prenatal diagnosis, and patient management. However, translating human genome research into clinical practice requires the development of comprehensive and effective programs by health authorities. Although progress has been made in this respect in some Arab countries—such as the mandatory premarital screening for thalassemia and sickle cell anemia program, prenatal screening, and the diagnosis of congenital anomalies—the limited options available for carrier couples remain a challenge in making these programs effective in the prevention of genetic diseases.

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