TY - JOUR
T1 - Genetic counseling of high-risk isolated populations
T2 - A worldwide challenge
AU - Sagi-Dain, Lena
AU - Weissman, Irith
AU - Cohen-Kfir, Nehama
AU - Kalfon, Limor
AU - Edri, Nurit
AU - Shasha Lavski, Hadas
AU - Peleg, Amir
AU - Falik-Zaccai, Tzipora C.
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2020/3/1
Y1 - 2020/3/1
N2 - Background: Isolated populations with high rates of consanguinity and genetic disorders can be found in most parts of the world. The aim of our paper was to highlight the unique challenges faced in genetic counseling for such patients and to discuss the ways to facilitate the difficulties, with an emphasis on the crucial role of electronic medical records (EMR). Case: We report a couple presenting with elevated maternal alpha-fetoprotein in three pregnancies, in which an erroneous diagnosis of epidermolysis bullosa was established in the past and carried along through several years. The live born proband had no evidence of skin disease; however, soon after birth she was diagnosed with congenital nephrotic syndrome. Sequencing of NPHS1 gene yielded a homozygous likely pathogenic genetic variant c.2104G > A (p.Gly702Arg). Population screening performed in the village of residence revealed a carrier frequency of 1–47. This high frequency justified including testing for the founder genetic variant in the national program for population screening. Conclusions: Our report highlights the caution, suspicion and time investment which should be practiced and addressed in genetic counseling of high-risk isolated populations. Using EMR may facilitate reaching the correct diagnosis, enable accurate genetic counseling and provide information for decision-making to the couples, as well as “save” a large community from devastating diseases.
AB - Background: Isolated populations with high rates of consanguinity and genetic disorders can be found in most parts of the world. The aim of our paper was to highlight the unique challenges faced in genetic counseling for such patients and to discuss the ways to facilitate the difficulties, with an emphasis on the crucial role of electronic medical records (EMR). Case: We report a couple presenting with elevated maternal alpha-fetoprotein in three pregnancies, in which an erroneous diagnosis of epidermolysis bullosa was established in the past and carried along through several years. The live born proband had no evidence of skin disease; however, soon after birth she was diagnosed with congenital nephrotic syndrome. Sequencing of NPHS1 gene yielded a homozygous likely pathogenic genetic variant c.2104G > A (p.Gly702Arg). Population screening performed in the village of residence revealed a carrier frequency of 1–47. This high frequency justified including testing for the founder genetic variant in the national program for population screening. Conclusions: Our report highlights the caution, suspicion and time investment which should be practiced and addressed in genetic counseling of high-risk isolated populations. Using EMR may facilitate reaching the correct diagnosis, enable accurate genetic counseling and provide information for decision-making to the couples, as well as “save” a large community from devastating diseases.
KW - consanguinity
KW - electronic medical records
KW - erroneous diagnosis
KW - genetic counseling
KW - isolated populations
UR - http://www.scopus.com/inward/record.url?scp=85080840463&partnerID=8YFLogxK
U2 - 10.1002/bdr2.1633
DO - 10.1002/bdr2.1633
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C2 - 32115902
SN - 2472-1727
VL - 112
SP - 316
EP - 320
JO - Birth Defects Research
JF - Birth Defects Research
IS - 4
ER -