After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

Abstract

Objective: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, β-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated with severe conditions in homozygote or compound heterozygote forms are identified yearly. Thus far, approximately 60 patients and 800 healthy sickle cell (HbS) carriers are reported each year among 180,000 newborns. Results are sent to the general practitioner with the recommendation to inform and diagnose both parents of the healthy carriers to exclude genetic risk, while patients and their parents are referred directly to a pediatrician. This study was performed to determine how often parents of identified carriers and affected newborns are seen in genetic centers for counseling. Methods: In this retrospective study, we collected anonymized data from 7 of the 8 Dutch clinical genetic centers from January 1, 2007, until December 31, 2010. Results: After an initial general increase in total counseling intakes, a decline was noticed in the third year, while the requests for prenatal diagnoses remained relatively stable. In 2007 and 2013, genetic counselors were asked for self-reported knowledge. They found hemoglobinopathy counseling complex, but by 2013, they indicated they had acquired sufficient knowledge on most hemoglobinopathy aspects. Conclusion: We could not observe a significant increase in genetic counseling for hemoglobinopathy after its introduction into newborn screening. Although 120 HbS carriers and 60 patients are expected to be born from couples at risk annually, only 33 at risk couples out of 540 families of diagnosed newborns received optimal care and information at a genetics center in 4 years.

Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

“…The reasons can be searched in the partial report of carriers (HbS only), in the possibly directive counseling if focused on treatment rather than on explaining the severity of the progressive diseases, in the lack of motivation of part of the badly informed target population [29] and last but not least in potential conflict of interests that, as suggested by Kabbak, could be felt in some systems, as conflicts of interest on the part of entrepreneurial scientists vs . clinicians, and institutions [8].…”

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

“…Most of the developed countries have NBS programs in place which can screen for different inherited disorders at the time of birth or soon after birth (11–16). However, sadly, there is still no local or national level NBS program for any of the IEM in Pakistan—a country with population of more than 220 million.…”

Experiences of a High‐Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

“…In addition to the identification of children with a HbP, carrier status can be reported from neonatal screening as well. In that case parents may be referred to genetic centers for counseling, especially carrier couples, though it has been shown that few couples in the Netherlands are seen in genetic centers (Kaufmann et al 2014 ). Screening offers also differ in the way of delivery (universal or ancestry-based), the timing (premarital, preconceptional or prenatal), its mandatory or voluntary character, and counseling and informed consent procedures (Cousens et al 2014 ; Cousens et al 2010 ; Giordano et al 2014 ).…”