An European overview of genetic counselling supervision provision.

Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too. However, in many European countries, genetic counsellors are still an emerging professional group and counselling supervision is not routinely offered and there are no enough evidences on the impact of these insufficiencies. This study aimed to explore the current status of genetic counselling supervision provision across Europe and to ascertain factors that might be relevant for the successful implementation of counselling supervision. A total of 100 practitioners responded to an online survey; respondents were from 18 countries, with the majority working in France (27%) and Spain (17%). Only 34 participants reported having access to genetic counselling supervision. Country of origin, the existence of a regulation system and years of experience were factors identified as relevant, influencing access and characteristics of counselling supervision. Although there is a growing number of genetic counsellors trained at European level, just a few countries have implemented and required as mandatory the access to genetic counselling supervision. Nevertheless, this is essential to ensure a safe and effective genetic counselling and should be regulated at the European genetic healthcare services.

SMN1 copy-number and sequence variant analysis from next-generation sequencing data.

Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the complexity of the SMN locus makes the estimation of the SMN1 copy-number by next-generation sequencing (NGS) very difficult. Here, we present SMAca, the first python tool to detect SMA carriers and estimate the absolute SMN1 copy-number using NGS data. Moreover, SMAca takes advantage of the knowledge of certain variants specific to SMN1 duplication to also identify silent carriers. This tool has been validated with a cohort of 326 samples from the Navarra 1000 Genomes Project (NAGEN1000). SMAca was developed with a focus on execution speed and easy installation. This combination makes it especially suitable to be integrated into production NGS pipelines. Source code and documentation are available at https://www.github.com/babelomics/SMAca.

A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.

Huntington's disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available for couples at risk of transmitting HD to their children. An ethical problem can arise after prenatal diagnosis for HD if a known 'high risk' pregnancy is continued to term: international guidelines emphasise that this situation should be avoided where possible, as it removes the resulting child's future right to make an informed, autonomous decision about predictive testing. The UK Huntington's Disease Predictive Testing Consortium recorded 21 pregnancies that were tested, identified as high-risk and then continued. In this qualitative study, health professionals reviewed the case notes of 15 of these pregnancies. This analysis generated guidelines for clinical practice. It is recommended that practitioners: (i) remind couples of the long-term consequences of continuing a high risk pregnancy, (ii) ensure couples understand the information provided, (iii) collaborate closely with other professionals involved in the couple's prenatal care, (iv) prepare couples for the procedural aspects of prenatal diagnosis and a possible termination of pregnancy, (v) allow time for in-depth pre-test counselling, (vi) explain the rationale for only making prenatal diagnosis available subject to conditions, whilst allowing for human ambivalence and acknowledging that these 'conditions' cannot be enforced, (vii) monitor the whole clinical process to ensure that it works 'smoothly', (viii) recommend couples do not disclose the result of the prenatal test to protect the confidentiality and autonomy of the future 'high-risk' child, and (ix) offer on-going contact and support.

The perceived impact of the European registration system for genetic counsellors and nurses.

The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.

Ataxia telangiectasia: presentation and diagnostic delay.

BACKGROUND AND AIMS: Ataxia telangiectasia (A-T) is a rare progressive, multisystem genetic disease. Families of children with ultra-rare diseases often experience significant diagnostic delays. We reviewed the diagnostic process for A-T in order to identify causes of delay in an attempt to facilitate earlier identification of A-T in the future. METHODS: A retrospective case note review of 79 children at the National Paediatric A-T clinic seen since May 2009. Data were collected on the nature and age of initial symptoms, the age at first presentation, measurement of alpha feto-protein (AFP) and age of genetic diagnostic confirmation. RESULTS: At presentation, 71 children (90%) had ataxia. The median presentation delay (from first parental concern to presentation) was 8 months (range 0-118 months), and the median diagnostic delay (genetic confirmation of diagnosis) was 12 months (range 1-109 months). CONCLUSIONS: There are significant delays in presentation and diagnostic confirmation of A-T. A greater awareness of A-T and early measurement of AFP may help to improve this.

Growth and nutrition in children with ataxia telangiectasia.

BACKGROUND: Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive growth failure and that early gastrostomy tube feeding (percutaneous endoscopic gastrostomy, PEG) is a favourable management option with good nutritional outcomes. METHODS: Data were collected prospectively on weight, height and body mass index (BMI) at the national paediatric A-T clinic. Adequacy and safety of oral intake was assessed. Nutritional advice was given at each multidisciplinary review. RESULTS: 101 children (51 girls) had 222 measurements (32 once, 32 twice, 24 thrice) between 2009 and 2016. Median (IQR) age was 9.3 (6.4 to 13.1) years. Mean (SD) weight, height and BMI Z-scores were respectively -1 (1.6), -1.2 (1.2) and -0.4 (1.4). 35/101 children had weight Z-scores below -2 on at least one occasion. Weight, height and BMI Z-scores declined over time. Decline was most obvious after 8 years of age. 14/101 (14%) children had a PEG, with longitudinal data available for 12. In a nested case control study, there was a trend for improvement in weight in those with a PEG (p=0.10). CONCLUSIONS: Patients with A-T decline in growth over time. There is an urgent need for new strategies, including an understanding of why growth falters. We suggest early proactive consideration of PEG from age 8 years onwards to prevent progressive growth failure.