TY - JOUR
T1 - The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing
AU - Sukenik-Halevy, Rivka
AU - Ludman, Mark David
AU - Ben-Shachar, Shay
AU - Raas-Rothschild, Annick
N1 - Publisher Copyright:
© American College of Medical Genetics and Genomics.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - Purpose:Clinical genetics services are time- and labor-intensive. With increasing pressure for cost-effective medical care, the means of providing medical genetics services need to be evaluated in the current era of new genomic technologies.Methods:An anonymous online survey regarding activities linked to medical genetics practice was administered to an international cohort of professionals.Results:Among 151 responses, the reported average time required for pediatric, oncogenetic, pregnancy with a malformed fetus, and preamniocentesis counseling sessions was 48, 37, 40, and 18 min, respectively. The time required to prepare a summary letter followed a similar pattern. Professionals with less experience needed more time for specific activities. The time required for the total workup of a pediatric patient ranged from 1 h and 48 min to 4 h, most of which was associated with indirect activities. Professionals performing one type of consultation (74% pediatric geneticists) perform fewer consultations per week. Respondents' narrative comments reflected the complexity of the work and challenges faced.Conclusion:Clinical genetics is a time-consuming profession with increased demands related to advanced genetic and genomic testing. Further consideration is required to determine how to adapt these changes to the demands of cost-effectiveness without compromising the quality of patient care.Genet Med 18 4, 372-377.
AB - Purpose:Clinical genetics services are time- and labor-intensive. With increasing pressure for cost-effective medical care, the means of providing medical genetics services need to be evaluated in the current era of new genomic technologies.Methods:An anonymous online survey regarding activities linked to medical genetics practice was administered to an international cohort of professionals.Results:Among 151 responses, the reported average time required for pediatric, oncogenetic, pregnancy with a malformed fetus, and preamniocentesis counseling sessions was 48, 37, 40, and 18 min, respectively. The time required to prepare a summary letter followed a similar pattern. Professionals with less experience needed more time for specific activities. The time required for the total workup of a pediatric patient ranged from 1 h and 48 min to 4 h, most of which was associated with indirect activities. Professionals performing one type of consultation (74% pediatric geneticists) perform fewer consultations per week. Respondents' narrative comments reflected the complexity of the work and challenges faced.Conclusion:Clinical genetics is a time-consuming profession with increased demands related to advanced genetic and genomic testing. Further consideration is required to determine how to adapt these changes to the demands of cost-effectiveness without compromising the quality of patient care.Genet Med 18 4, 372-377.
KW - clinical genetics practice
KW - cost effectiveness
KW - international online survey
KW - new genomic technologies
UR - http://www.scopus.com/inward/record.url?scp=84962616383&partnerID=8YFLogxK
U2 - 10.1038/gim.2015.96
DO - 10.1038/gim.2015.96
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C2 - 26181490
AN - SCOPUS:84962616383
SN - 1098-3600
VL - 18
SP - 372
EP - 377
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 4
ER -