Timing and Relaying of Results

Potential ApproachesStrengths and Challenges
Screen for FXS at a later time in development (eg, 6 wk or 6 mo of age).Strengths
 Would allocate time and resources to the most concerning conditions first, while still allowing for large-scale screening at a later date.
 Parents would have more bonding time with their child before finding out results.
 Would result in earlier identification than is currently occurring.
 The public health and clinical infrastructure for this type of screening would need to be developed.
 More families may be lost to follow-up if the time lapse between testing and receiving results is too long.
 If evidence were to indicate children can benefit from earlier EI, this approach would delay the implementation of beneficial services.
Through NBS, provide the FMR1 mutation status to parents of infants with premutation or full mutation.Strengths
 Would allow for earliest identification of individuals with FXS and identify individuals who may be at risk for a FXD.
 Provides additional information regarding familial risk.
 Parents might worry about their child’s future health and will have to decide when and how to disclose carrier status to their children.
 Burden on the public health and medical systems due to the higher prevalence of carriers of the premutation (compared with the full mutation).
 Burden on the public health and medical systems to relay complex genetic information to a lay population.
Through NBS, provide the FMR1 mutation status only to parents of infants who screen positive for a full mutation.Strengths
 Would allow for the earliest identification of individuals with FXS without increasing the possibility of family anxiety regarding identifying carriers of the premutation.
 Could potentially be more in line with current state NBS programs.
 The burden of follow-up would be greatly reduced.
 Establishing a screening cut-off for a positive screen; >200 CGG repeats is the current cutoff to diagnose FXS, but findings have been reported that children in the high CGG repeat premutation range can have developmental and behavioral challenges.
 Families would not have information about reproductive risk.
 Families in which the mother is a premutation carrier could receive false assurance that they are not at risk for having a child with FXS.
 Ethical concerns regarding not reporting potentially medically useful information from parents.
Create a screening model in which parents could choose whether they would like to know if they are a carrier of the premutation.Strengths
 Could reduce some ethical concerns.
 Respects parental autonomy and allows families to make decisions that are consistent with their values and preferences.
 The consent and decision-making process could be challenging to implement in terms of timing, cost, and responsibility.
 Some parents will opt not to have their child screened, and therefore some children with FXS could be missed.
Develop protocol for follow-up/monitoring of developmental and physical health of infants (and parents) identified as carriers of the premutation.Strengths
 Tracking child development could reduce parental anxiety.
 Children could be identified at the first signs of delay.
 Provides families with information regarding reproductive risk and risk for the potential later-onset health concerns.
 Would require building the infrastructure to conduct monitoring.
  • Content based on synthesis of available literature and key informant interview responses.