Meet the Expert
Chair(s)
  • Asbjørg Stray-Pedersen, Norway
Room
Silver
Date
20.09.2019, Friday
Session Time
07:45 - 08:45
Meet the Expert No Topic Needed

NEWBORN SCREENING -MANAGING THE RESULTS

Lecture Time
07:45 - 08:10
Presenter
  • Lennart Hammarström, Sweden
Room
Silver
Date
20.09.2019, Friday
Session Time
07:45 - 08:45
Presentation Topic
No Topic Needed

Abstract

Abstract Body

Newborn screening was initiated in the early sixties and was initially limited to a few metabolic diseases using dried blood spots (DBS) collected on filter paper (Guthrie cards). During the 1990-ties, attempts were made to use these cards to screen for severe combined immunodeficiency (SCID) in newborns and in 2005, Jennifer Puck published a landmark paper where she and her co-workers described a PCR method for estimating the number of recently formed T cells (TREC – T cell receptor excision circles) using dried blood spots. This method detects a number of different forms of primary immunodeficiency involving T cells (T cell lymphopenia) but is primarily aimed at detecting children with SCID. This method has received world-wide recognition and is currently used routinely in several countries.

In 2011, Nakagawa and co-workers described a similar assay whereby B cells could also be enumerated using dried blood spots (KREC – kappa receptor excision circles), allowing estimation of both T and B cell lymphopenia in the same sample, which coupled with a marker for all cells (actin), laid the foundation for an extended screening for immunodeficiency. This test, which is currently being used in pilot experiments in several countries, is currently included in the national newborn screening programs in Sweden and Germany.

NGS tests such as WES and WGS are also currently being explored for use on disease affected and, lately, even healthy newborns and the future development in this field, including multi-omic analyses on Guthrie card extracts, will be discussed at the meeting.

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Meet the Expert DNA repair disorders

DILEMMA OF REPORTING UNTREATABLE INCIDENTAL FINDINGS IN SCID SCREENING PROGRAMS: THE STORY OF ATAXIA TELANGIECTASIA

Lecture Time
08:10 - 08:20
Presenter
  • Maartje Blom, Netherlands
Room
Silver
Date
20.09.2019, Friday
Session Time
07:45 - 08:45
Presentation Topic
DNA repair disorders

Abstract

Background and Aims

Ataxia Telangiectasia (A-T) is a severe DNA repair disorder that leads to neurodegeneration and a variable immunodeficiency. A-T is one of the incidental findings that accompanies newborn screening for SCID, leading to an early diagnosis of A-T in a pre-symptomatic stage. While some countries embrace all incidental findings, the current policy in the Netherlands on reporting untreatable incidental findings is more conservative. We present a parents perspective on the differing advantages and disadvantages of early and late diagnosis of A-T.

Methods

A semi-structured questionnaire was developed and send to 4000 parents of healthy newborns who participated in the Dutch SONNET-study (pilot study for newborn screening for SCID). The questionnaire consisted of open-ended and scale questions on advantages and disadvantages of early and late diagnosis of A-T.

Results

The vast majority of parents favoured early diagnosis of A-T over late diagnosis. Main arguments were to avoid a long period of uncertainty prior to diagnosis and to ensure the most optimal clinical care from the start. Parents who favoured late diagnosis of A-T stated that early diagnosis would not lead to improved quality of life and preferred to enjoy the so-called ‘golden years’ of their child.

Conclusions

Although the current policy in the Netherlands is not to report untreatable incidental findings, unless it would create a clear health advantage, the majority of parents of healthy newborns are in favour of an early A-T diagnosis in the pre-symptomatic phase of the disease. This knowledge might lead to the revision of the current newborn screening protocol for SCID.

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Meet the Expert Other

EARLY DETECTION OF ATAXIA TELANGIECTASIA IN THE NEONATAL PHASE: A A-T PARENTS PERSPECTIVE

Lecture Time
08:20 - 08:30
Presenter
  • M.H.D Schoenaker, Netherlands
Room
Silver
Date
20.09.2019, Friday
Session Time
07:45 - 08:45
Presentation Topic
Other

Abstract

Background and Aims

Ataxia Telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodefiency. Together with the Dutch A-T community we investigated the opinion of A-T parents about an early A-T diagnosis in the asymptomatic phase of the disease, which could be an incidental finding during SCID screening with TRECs.

Methods

During an annual national meeting for A-T patients and families an update is given about recent developments in the field of A-T research. The topic of an early A-T diagnosis was discussed in relation to TREC screening for SCID. Based on these discussion individual arguments were identified and processed into a questionnaire, which was send out to 64 A-T parents (32) families. Arguments included in the questionnaire were: insecurity to diagnosis, possible medical advantages, prenatal diagnostics for possible brother/sister, loss of ”golden” years and early cancer screening for parents.

Results

The response rate was 55% (n=64). 25 (71%) parents think the advantages outweigh the disadvantages, 5 parents think the disadvantages outweigh the advantages and 4 parents did not indicate a preference. The majority of parents of A-T patients prefers an early diagnosis of A-T shortly after birth of the child.

Conclusions

The majority of parents of a child with A-T prefer an early diagnosis, because the uncertainty during the diagnostic process has a major impact on their lives. In addition, the knowledge of being both carriers of an ATM mutation influences the decision about further family planning. Parents who oppose against an early diagnosis emphasize the joy of having a seemingly healthy child until diagnosis.

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