Population medical genetics: translating science to the community

Abstract

Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

“…The pilot study has started with the measurement of arylsulfatase B (ARSB) in DBS samples with a fluorometric method that was adapted for microplates [ 31 ]. However, due to the high rate of false positives, and to the fact that all patients previously identified carry the same pathogenic variant, the screening method was changed to molecular genetics, with the detection of the common variant by real-time PCR in DBS [ 32 ].…”

“…From 2011 to 2017, 3903 newborns were analyzed, and 67 (1.72%) were found to be carriers for p.His178Leu. Although no affected patients were identified, the carrier rate allowed an estimation of the disease incidence as 1:16,000 per live births in the area [ 32 ]. This pilot study was part of a community genetics program that involved educational activities in the community and genetic counseling to the population at risk [ 32 ].…”

A large family with CYLD cutaneous syndrome: medical genetics at the community level

“…Future research in this and other families with CCS around the world may help to reveal key aspects of the disease, as well as provide important insights into human tumorigenesis and treatment. This study also raises some interesting aspects of monogenic disorders at the community level (Giugliani et al 2019). Autosomal recessive diseases are known to be associated with isolation and endogamy, and clusters of these disorders can be found in the Brazilian northeast at a relatively high frequency (dos Santos et al 2013;Cardoso et al 2018).…”

“…The prevalence of CYLD germline mutations in the UK population was estimated to be~1:100,000 (Dubois et al 2015), much lower than its minimum prevalence estimated in Aracati (3.5/ 10,000). A geographical cluster, such as this one, prompts the implementation of tailored health policies directed towards this community (Giugliani et al 2019). In addition to genetic counseling and clinical support offered to family members, it is important to implement educational strategies aimed at the whole community to avoid stigmatization of the family members and the community itself.…”

Decifrando o mistério dos gêmeos : vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul

“…A Genética Médica Populacional visa o estudo e o cuidado médico da população, e não do indivíduo ou da família, como é a prática normal genética clínica ou médica 1,2 . Com base nessa premissa, o Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP) foi criado em 2008, tendo como sede o Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre (SGM-HCPA) 3 .…”