Belinda J McClaren

‘It is not in my world’: an exploration of attitudes and influences associated with cystic fibrosis carrier screening

Carrier screening for cystic fibrosis has been recommended for pregnant women and their partners, individuals and couples prior to conception, and for people with a family history. Many pilot programmes offering cystic fibrosis carrier screening, most commonly in the prenatal setting, have shown that uptake and acceptability are high. This article explores perspectives of the Victorian community regarding carrier screening for cystic fibrosis prior to offering screening. In particular whether or not such carrier screening should be offered, the best time for offering carrier screening, the information required for making a decision about carrier screening, and how this information can best be provided. A qualitative approach was taken to enable exploration of the views of stakeholders. Four focus groups and 32 interviews were conducted with a total of 68 participants. Participants were in agreement that cystic fibrosis carrier screening should be made available to everyone. However, potential consumers viewed cystic fibrosis carrier screening as ‘not in my world’ and were unlikely to request such screening unless it was offered by a health professional, or they had a family history. The best time for carrier screening was seen to be an individual preference and an information brochure was perceived to be useful when considering carrier screening. Lack of knowledge around the irrelevance of family history is a barrier to cystic fibrosis carrier screening. This study highlights the importance of community consultation, with stakeholders, prior to implementation of carrier screening programmes.

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been previously described, and this study describes uptake by both parents and adult non-parent relatives in Victoria, Australia. Pedigrees were taken from parents of children who were born in 2000–2004 and diagnosed with CF. A total of 40 families were eligible for the study and 30 (75%) were recruited. In all, 716 non-parent relatives were identified from the pedigrees as eligible for carrier testing, and 82 (adjusted uptake percentage: 11.8%; 95% confidence interval 8.0–15.7) have had carrier testing by March 2009. On average, 2.7 non-parent relatives per family had CF carrier testing after diagnosis through NBS. The odds of being tested were greater for females than males (adjusted odds ratio 1.61; 95% confidence interval 1.11–2.33; P=0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38–11.24; P<0.001). Most relatives who undergo testing are tested immediately after the babys diagnosis; however, some testing is undertaken up to 8 years later. These results indicate that in a clinical setting, the diagnosis of a baby with CF by NBS does not lead to carrier testing for the majority of the babys non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500–3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.Genet Med 2014:16(3):207–216

Population-Based Genetic Screening for Cystic Fibrosis: Attitudes and Outcomes

A population-based cystic fibrosis (CF) carrier screening program was introduced in Victoria, Australia in 2006, and was offered to couples planning a pregnancy or in early pregnancy for a fee. Individuals received pre-test advice from their doctor and through a brochure. Carriers identified received genetic counseling. The aim of this study was to assess the attitudes of people undertaking screening. Between January 2006 and June 2008 all carriers (n = 79) and a randomly selected cohort of non-carriers (n = 162) were invited to participate. A purpose-designed questionnaire explored the following domains: knowledge, recollection and meaning of carrier status, reasons for having screening, anxiety and communication of results to family members. Forty-seven carriers (62%) and 65 non-carriers (41%) returned the questionnaire. Most participants were female (97%) aged 35–39 (46%). The main reasons for choosing screening were the perception of CF as a severe condition and a doctor’s recommendation. All carriers correctly recalled their carrier status and the risk of having a child with CF, while 3 non-carriers (4.7%) were unsure of their carrier status and 12 (22%) incorrectly recalled their residual risk. Carriers answered the knowledge questions correctly more often than non-carriers. There was no difference in anxiety between carriers and non-carriers. The majority of carriers informed relatives of their increased risk of being a carrier. We conclude that participants’ attitude towards carrier screening for CF was generally very positive. Our model of screening could be applied on a larger scale.

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

BackgroundGenetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.MethodsThis is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms – the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.DiscussionThis study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.Trial registrationAustralia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents’ experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n=49 during 2005–2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child’s development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents’ experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children’s treatment.

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

Purpose:Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivators as well as barriers to testing.Methods:Parents were interviewed about communicating the genetic information and also asked to recruit their relatives to receive a specifically developed questionnaire.Results:Thirty parents were interviewed and addresses of 284 relatives were provided; completed questionnaires were received from 225 (79%). A relative’s relationship to the child, as well as knowledge, is associated with having had carrier testing. Relatives’ reasons for testing included curiosity and wanting information for other relatives and for reproductive planning. Reasons for not testing were perceived irrelevance, lacking awareness, and viewing it as something to do in the future. Parents communicated the genetic information to relatives in various ways, which contributed to whether relatives accessed carrier testing.Conclusion:Newborn screening programs should provide support to parents to aid communication of genetic information to relatives. (Ir)relevance of testing is often linked to life stage; ongoing support and communication may allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.Genet Med 2013:15(7):533–540

Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making.

Population-based screening for carrier status of genetic conditions is increasingly becoming available in developed countries with future directions including carrier testing for large numbers of genetic conditions in a single instance using next generation technologies (Bell et al. 2011). In Australia, population-based carrier screening is undertaken widely for haemoglobinopathies (Metcalfe et al. 2007) and is offered in some parts of the country for cystic fibrosis (CF) (Christie et al. 2006; Massie et al. 2009). In addition, screening is available in some states for conditions more prevalent in Ashkenazi Jewish populations, such as Tay Sachs disease (Gason et al. 2005; Barlow-Stewart et al. 2003). Fragile X syndrome (FXS) and spinal muscular atrophy have also been identified as conditions for which carrier screening could be offered (Delatycki 2008). Despite a population of approximately 21 million, there are no national screening programmes in Australia; genetics services and screening programmes vary from state to state (Metcalfe et al. 2009). Although a range of factors are important to consider when developing population-based carrier screening programmes, a challenge is how to address the apparent lack of community awareness and knowledge about genetic conditions, in particular, the risk of being a carrier. Thus, it is recognised that education is an important component of population-based genetic screening programmes. Further, consideration of psychosocial aspects, such as decision making, attitudes, and understanding, should be incorporated into any evaluation of the feasibility and acceptability of such a programme (Godard et al. 2003). In the state of Victoria, Australia, research investigating population-based carrier screening for CF and FXS has involved needs assessments incorporating exploration of a wide range of factors which may inform decisions about implementation of screening programmes for both of these conditions (Archibald et al. 2009; McClaren et al. 2008; Metcalfe et al. 2008).

A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified into three types based on the age at which children present with symptoms and the clinical severity. Families’ experiences leading up to the diagnosis have not been described, but are important when considering the potential for a diagnostic odyssey. Using a mixed methods approach, data were collected from interviews and a national survey of families of children with SMA to explore their experiences of this journey. The combined findings (n=28) revealed that the journey to receiving a diagnosis was protracted. The time from first noticing symptoms to finally receiving a diagnosis was emotional and frustrating. Once parents or other family members became aware of symptoms, almost all had consulted with multiple different health professionals before the diagnosis was ultimately made. Not surprisingly, receiving the diagnosis was devastating to the families. The nature of the information and the way it was given to them was not always optimal, particularly because of the difficulties predicting clinical severity. Most felt that their child could have been diagnosed earlier and, although there were mixed views around the benefit of this for their child, they felt it may have reduced the emotional impact on families. Overall, families were more in favour of population carrier screening for SMA when compared with newborn screening of the population. Despite an increasing awareness of SMA, the diagnostic delay continues to have negative impacts on families.