. 2011 Feb 16;19(6):640–646. doi: 10.1038/ejhg.2010.258

Table 1. Explanation of the genetic condition and inclusion criteria used to recruit participants.

Genetic Condition and summary of inheritance pattern	Inclusion criteria
• Cystic fibrosis (CF) (autosomal recessive – onset from birth) • Neurofibromatosis (NF) (autosomal dominant – onset from birth, wide variation in signs and symptoms) • Duchenne Muscular Dystrophy (DMD) (X-linked recessive – onset of symptoms in early childhood, progressive deterioration until death in late adolescence early adulthood) • Haemoglobinopathies (HbO) (autosomal recessive – acute episodes throughout child and adulthood, vary in frequency) • Familial Adenomatous Polyposis(FAP) (autosomal dominant – adolescence onset) • Huntingtons Disease (HD) (autosomal dominant – usually adult onset, often middle age)	• Participant families had been diagnosed with or at risk from the genetic condition for a minimum of 12 months, and at least one member (either child or adult) was affected or at risk from the condition, including the possibility of being a carrier. • The family had access to a peer support group or a health professional following the interview so that any personal or family issues unintentionally triggered by the interviewers could be discussed with experienced people capable of giving appropriate support and advice. • The research ethics committee directed that the children to be interviewed should be aged 8 years and above, except for families affected by HD where only young people 16 years and above could be interviewed. • Children were only included in the interviews where parents confirmed that they had personally explained to the child about the genetic condition and its risks, and they were willing to answer any questions the interview may raise for the child. • Definition of a family member according to Metcalfe et al (2008).

Genetic Condition and summary of inheritance pattern

Inclusion criteria

• Cystic fibrosis (CF) (autosomal recessive – onset from birth) • Neurofibromatosis (NF) (autosomal dominant – onset from birth, wide variation in signs and symptoms) • Duchenne Muscular Dystrophy (DMD) (X-linked recessive – onset of symptoms in early childhood, progressive deterioration until death in late adolescence early adulthood) • Haemoglobinopathies (HbO) (autosomal recessive – acute episodes throughout child and adulthood, vary in frequency) • Familial Adenomatous Polyposis(FAP) (autosomal dominant – adolescence onset) • Huntingtons Disease (HD) (autosomal dominant – usually adult onset, often middle age)

• Participant families had been diagnosed with or at risk from the genetic condition for a minimum of 12 months, and at least one member (either child or adult) was affected or at risk from the condition, including the possibility of being a carrier. • The family had access to a peer support group or a health professional following the interview so that any personal or family issues unintentionally triggered by the interviewers could be discussed with experienced people capable of giving appropriate support and advice. • The research ethics committee directed that the children to be interviewed should be aged 8 years and above, except for families affected by HD where only young people 16 years and above could be interviewed. • Children were only included in the interviews where parents confirmed that they had personally explained to the child about the genetic condition and its risks, and they were willing to answer any questions the interview may raise for the child. • Definition of a family member according to Metcalfe et al (2008).