Background to the Research

• When a child has a disability, some parents undergo genetic investigations and counselling. This is viewed as an important part of the parent's adaptation to their child's condition; yet little is known about the expectations and experiences of parents who undergo testing and counselling.
  

Research Approach

• A mixed-method, combining questionnaires prior to and interviews after an appointment with a geneticist, was used.
• Eleven parents completed questionnaires prior to their appointment and, of these, 6 provided information 1 week after the appointment and 7 participated in a semi-structured interview 6 weeks after the appointment.
  

Main Findings

Profile of the sample

• Seven mothers and 4 fathers completed questionnaires prior to their appointment and 5 mothers and 2 fathers took part in interviews after their appointments. Eight of the 11 parents were aged between 32-39 years.
• Only one set of parents had their first and only child referred to the geneticist. All the other parents had between 1 and 6 other children in their family. The age of children referred ranged from 21 months to 10 years; all but 1 child was 5 years old or younger.
• The majority of parents (7 out of 10) had been waiting 4 months or less since referral for an appointment.
• Six participants stated no concerns about attending their appointment, 4 expressed concern about not knowing what to expect and 1 that the doctor would not take their concerns seriously.
• Appointments were reported as lasting from 5 to 30 minutes, with a mean of 23 minutes.

Patents' views 1 week after the appointment

• Five parents reported all their expectations were met by the appointment, 2 that the appointment had clarified why the disability existed and 1 stated few of their expectations had been met.
• Three of the 7 parents reported feeling confident about their appointment; however, 6 expressed uncertainty about exactly what to expect. Several parents alluded to concerns as to the nature of examinations that might be carried out on their child.
• Parents put the appointment in the context of the larger picture of having a child with disabilities. All had seen many other doctors in relation to their child.
• All respondents identified a need for information from their genetic counselling appointment, 8 participants sought answers as to why/how their child had a disability. The other 3 focused on how best to improve the situation for their child.
• All parents agreed that it was not until a few days later that the implications of information given to them began to sink in.
• Four of the 7 parents were provided with the estimated numerical recurrence risks and 2 mothers with a diagnosis of a specific condition and broad categorical-based recurrence risks.
• Parents reported changing their attitude towards their children, viewing their behaviour as part of their condition and needing treatment.
• Two mothers had teenage daughters and discussed the received information with them; 5 parents had discussed information with their parents and other family members.

Parents' views 6 weeks after the appointment

• All parents expressed a desire for more information; only 1 had a further appointment with a geneticist. None had received written information from the geneticist, either in relation to their child or support groups since their appointment. None had received a visit from the local health and social service staff.
• All respondents highlighted the need for clear information about the nature of the appointment at the point of referral. They also indicated a need for the role of each professional present to be stated and that an exchange of information should take place between parents and professionals.
• Parents indicated the need for a link person within local services who was informed about what happened at the appointment and could support the parents and wider family through the weeks after the appointment and who could provide information on support groups and other services.