Parental experience of a pediatric genetic referral

To describe the experience of parents whose child has been referred for possible genetic diagnosis.

Phenomenology was used to examine the experience of 20 sets of parents. Interviews with parents were conducted on three occasions and the transcripts were subjected to coding and thematic analysis.

Four themes were found: (1) impact of the child's condition on the family, (2) parental needs and motivation related to the referral, (3) psychological outcome of the referral for parents, and (4) psychosocial needs of parents in relation to the referral. Parents reported much stress, fear, and anxiety. Parents were motivated to accept the genetics referral to obtain information that could enhance the child's care or education and/or assist the parents to adjust psychologically to the child's condition, but preparatory information about the process of the clinical encounter was lacking. One of the worst stressors for parents was waiting for results. Communication with the professionals while they were waiting would have been helpful to them, as would the support to facilitate acceptance and adjustment to the situation. The impact of the child's condition on the family was powerful, altering the way in which the entire family functioned. Guilt about being the cause of the child's condition was expressed by mothers.

Professional input before, during, and after the genetic referral is needed by families to enable them to access additional information, explanations, and psychological support. Nurses should know where to refer parents for community support groups as well as for professional support.