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Genomics and public health 

Genomics and public health
Genomics and public health

Alison Stewart

, Wylie Burke

, Muin J. Khoury

, and Ron Zimmerns

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date: 19 May 2022

Public health has not traditionally been concerned with genomics. Practitioners of public health have regarded populations as essentially homogeneous, differing only in their exposures to environmental and social determinants of health such as poverty, poor housing, or toxic or infectious agents. Until recently, genomics and public health rarely came together except in the context of population screening programmes for certain genetic conditions. The first of these was newborn screening for the inherited metabolic disease phenylketonuria (PKU), for which biochemical screening and diagnostic tests became available during the 1960s (Botkin 2005). Although this genetic disease was rare, screening was recognized as a public health responsibility because early diagnosis and treatment of affected infants could prevent serious mental and physical disability in the population.

At around the same time, the speciality of medical genetics began to be recognized in some countries as a clinical discipline in its own right. As new interventions such as antenatal diagnosis for some genetic disorders were developed during the next few decades, geneticists and some public health professionals became involved in assessing population needs for services offering these interventions (Royal College of Physicians 1991) and, in countries such as the United Kingdom where public health has a role in healthcare service organization and delivery, in commissioning and allocating resources for them.

In some countries, enthusiasm for population screening broadened after the success of the early newborn screening programmes to include screening of sections of the adult population for some genetic conditions. In the United States, for example, mandatory screening of the African American population for sickle cell disease was introduced in the early 1970s. However the programme was ill-conceived: No clinical or public health benefits were identified, and there was evidence of stigmatization and discrimination against unaffected carriers of the condition (Markel 1997). Some other programmes met with more success, notably a carrier screening programme for Tay Sachs disease in the Ashkenazi Jewish community (Markel 1997) and screening for β‎-thalassaemia in Sardinia and Cyprus (Cao et al. 2002). Although newborn screening programmes continued, a general distrust of public health motives for population screening, together with the malign legacy of the eugenics movement of the early to mid-twentieth century, resulted during the late 1970s and 1980s in a general distancing of medical genetics from mainstream public health.

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