John Massie

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Papers by John Massie

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition

European Journal of Medical Genetics, Dec 1, 2020

Please refer to published version for the most recent bibliographic citation information. If a pu... more

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‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening

Journal of Community Genetics, May 29, 2013

The objective of this study was to assess attitudes and opinions of women declining the offer of ... more The objective of this study was to assess attitudes and opinions of women declining the offer of cystic fibrosis (CF) carrier screening through a population-based programme in Victoria, Australia. Between December 2009 and May 2011, women declining an offer of CF carrier screening were invited to participate in a questionnaire-based study. Recruitment was at two private obstetric ultrasound clinics and two private obstetric practices in Melbourne. Of the participants (n=54), the majority were well educated (76%), aged 30-34 years (54%), with a household income of >AUD$100,000 (76%). Compared to those who accepted screening (reported in a previous study) (Ioannou et al., Public Health Genomics 13:449-56, 2010), knowledge levels were significantly lower in participants declining screening (t=3.32, p<0.01). The main reasons for declining screening were having no family history of CF (58%) and not considering a termination of pregnancy for CF (53%). Providers and consumers should be informed that most children born with autosomal-recessive conditions such as CF have no family history of the condition.

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

European Journal of Human Genetics, May 26, 2010

Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier tes... more 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; P¼0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38-11.24; Po0.001). Most relatives who undergo testing are tested immediately after the baby's 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 baby's non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.

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Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening

European Journal of Human Genetics, Nov 20, 2013

Cystic fibrosis (CF) is the most common severe, autosomal recessive disease among Caucasians. A p... more Cystic fibrosis (CF) is the most common severe, autosomal recessive disease among Caucasians. A population-based CF carrier screening programme was implemented in Victoria, Australia, in 2006. Carrier screening for CF is currently only offered in the private health system. The aim of this study was to determine the attitudes and opinions of pregnant women in the public health system, towards screening for CF. Pregnant women were recruited in the antenatal clinics of two public hospitals, and invited to participate in the study. Results of this study were compared with previous studies where screening for CF carrier status was offered. Of the participants (n ¼ 158), the majority were aged 25-34 years old (66.1%) and were Caucasian (45.8%). Compared with those who were offered screening (reported in previous studies) participants in the current study were younger, had a lower level of education and a lower income. Knowledge was significantly lower in those who were not offered screening compared with those who were offered screening. The majority of participants believe CF carrier screening should be offered in the public health system (80.5%) and almost half would have liked to receive an offer of screening during their current pregnancy (49.7%). In order for the programme to be equitable, screening for CF carrier status needs to be offered in both the public and private health system and ideally should be at no cost to the user.

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Why Do Parents Want to Know their Child’s Carrier Status? A Qualitative Study

Journal of Genetic Counseling, May 19, 2016

When a child is identified with a genetic condition, some parents want to know the carrier status... more When a child is identified with a genetic condition, some parents want to know the carrier status of their other children. There has been little exploration of why parents want this information. To address this question, semi-structured interviews were conducted with parents of 32 children with cystic fibrosis, haemophilia, and Duchenne muscular dystrophy who wanted to know the carrier status of their other children. Data was analyzed using inductive content analysis. Parents expressed a range of reasons for desiring their child's carrier status, which fell into two broad categories: 1) benefit for the parents and 2) perceived benefit to the child. Parents discussed the desire for certainty and peace of mind derived from having knowledge of their child's status. The most commonly expressed reason for wanting to know their child's carrier status was in order to communicate the information to their child to provide them with the ability to make informed reproductive decisions. These reasons suggest parents are seeking their children's carrier information both as a coping strategy and to communicate carrier information as part of their role as a parent. This has important implications for genetic counseling practice, especially as international guidelines generally recommend against carrier testing in children.

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Newborn screening and population carrier screening for cystic fibrosis: Two ends of the same rope

Journal of Cystic Fibrosis, Jul 1, 2016

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Spontaneous chylothorax in a 2‐year‐old child

The Medical Journal of Australia, Oct 1, 2011

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Parents’ experiences with requesting carrier testing for their unaffected children

Genetics in Medicine, Mar 24, 2016

Results: Eight distinct pathways to carrier testing were distinguishable. While some parents had ... more Results: Eight distinct pathways to carrier testing were distinguishable. While some parents had requested testing, others had been offered testing and some had received carrier results incidentally following testing to exclude affected status. Some parents were discouraged from testing, which led to frustration. Overall, 67% of the parents had received carrier results for at least one child, and parents were happy to have results, even if their children were carriers. Despite recommendations against carrier testing, this study provides evidence of varying practices and highlights a need to review the guidelines.

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Genetic neologisms: Collective nouns for the geneticist

Journal of Paediatrics and Child Health, Dec 1, 2019

There are known -omes; there are unknown -omes, there are also -omes that we don't know that we d... more

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Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

The Journal of Pediatrics, Feb 1, 2017

Objective An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identi... more Objective An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identification of infants with a positive NBS test but inconclusive diagnostic testing. These infants are classified as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen positive, inconclusive diagnosis (CFSPID) in other countries. Diagnostic and management decisions of these infants are challenges for CF healthcare professionals and stressful situations for families. As CF NBS has become more widespread across the world, increased information about the epidemiology and outcomes of these infants is becoming available. These data were reviewed at the 2015 CF Foundation Diagnosis Consensus Conference, and a harmonized definition of CRMS and CFSPID was developed. Study design At the consensus conference, participants reviewed published and unpublished studies of CRMS/ CFSPID and used a modified Delphi methodology to develop a harmonized approach to the definition of CRMS/CFSPID. Several studies of CRMS/CFSPID from populations around the world have been published in the past year. Although the studies vary in the number of infants studied, study design, and outcome measures, there have been some consistent findings. CRMS/CFSPID occurs relatively frequently, with CF:CRMS that ranges from 3 to 5 cases of CF for every 1 case of CRMS/CFSPID in regions where gene sequencing is not used. The incidence varies by NBS protocol used, and in some regions more cases of CRMS/CFSPID are detected than cases of CF. The majority of individuals with CRMS/CFSPID do not develop CF disease or progress to a diagnosis of CF. However, between 10% and 20% of asymptomatic infants can develop clinical features concerning for CF, such as a respiratory culture positive for Pseudomonas aeruginosa. Most studies have only reported short-term outcomes in the first 1-3 years of life; the long-term outcomes of CRMS/CFSPID remain unknown. The European CF Society definition of CFSPID and the CF Foundation definition of CRMS differ only slightly, and the consensus conference was able to create a unified definition of CRMS/CFSPID. Conclusions CRMS/CFSPID is a relatively common outcome of CF NBS, and clinicians need to be prepared to counsel families whose NBS test falls into this classification. The vast majority of infants with CRMS/CFSPID will remain free from disease manifestations early in life. However, a small proportion may develop clinical features concerning for CF or demonstrate progression to a clinical phenotype compatible with a CF diagnosis, and their long-term outcomes are not known. A consistent international definition of CRMS/CFSPID will allow for better data collection for study of outcomes and result in improved patient care.

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Risk and Jet‐Skis

Journal of Paediatrics and Child Health, Aug 1, 2020

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Paediatric cystic fibrosis. Part 2: Pulmonary management

Viral induced hypersecretion of mucous (VIper)

Pediatric Pulmonology, Apr 8, 2019

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Breakthrough treatment in cystic fibrosis – Ivacaftor and sweat chloride

Pathology, Feb 1, 2016

How to interpret polysomnography

Archives of Disease in Childhood-education and Practice Edition, Oct 15, 2019

A 5-year-old child presents to a paediatric clinic with their parents because of concerns about s... more A 5-year-old child presents to a paediatric clinic with their parents because of concerns about snoring, which is loud, every night and associated with respiratory pauses. This has been present for 6 months. Can clinical evaluation diagnose sleep-disordered breathing in children or are further investigations required? Should further investigations include oximetry or polysomnography? If a polysomnogram is performed, how are the results interpreted? In this paper we describe the indications for polysomnography, outline the parameters measured and decode a clinical polysomnography report.

Medical collective nouns

The Medical Journal of Australia, Dec 1, 2016

A pedunculated papilloma causing ball valve obstruction of the larynx in a two-year-old child

Pediatric Pulmonology, Feb 1, 1997

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Primary care for young people with cystic fibrosis

Changing Patterns For The Introduction Of Non-Invasive Ventilation In Children With Neuromuscular Disease

The Internet Journal of Pulmonary Medicine, 2014

AIM: To review clinical practice for the initiation of home non-invasive ventilation (NIV) in chi... more AIM: To review clinical practice for the initiation of home non-invasive ventilation (NIV) in children with neuromuscular disease (NMD) METHODS: Chart review of all children with NMD initiated on home NIV over a 16-year period (27 May 1995 - July 1 2011). Patients were divided intobaselineandrecentgroups to assess for changes in clinical practice. RESULTS: Forty-four patients were studied (mean age 12.7yrs, SD 4.8). NIV use increased over the study period (1.4 NIV initiations/yr inbaselinegroup vs. 4.9/yr inrecentgroup, p < 0.0001). Patients in thebaselinegroup had more advanced respiratory insufficiency (awake pCO2 58.3 vs. 46.3mmHg, (p= 0.016)). More patients in thebaselinegroup started NIV at the stage of diurnal hypercapnic respiratory failure (10 of 14 (71%) vs. 8 of 30 (27%), p = 0.008), while nocturnal hypoventilation with daytime normocapnia was the most common indication in therecentgroup (14 of 30 (47%) vs. 2 of 14 (14%), p= 0.049). Severe respiratory tract infections o...

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A candidate reference method using ICP-MS for sweat chloride quantification

Clinical chemistry and laboratory medicine : CCLM / FESCC, Jan 10, 2015

The aim of the study was to develop a method for sweat chloride (Cl) quantification using Inducti... more The aim of the study was to develop a method for sweat chloride (Cl) quantification using Inductively Coupled Plasma Mass Spectrometry (ICP-MS) to present to the Joint Committee for Traceability in Laboratory Medicine (JCTLM) as a candidate reference method for the diagnosis of cystic fibrosis (CF). Calibration standards were prepared from sodium chloride (NaCl) to cover the expected range of sweat Cl values. Germanium (Ge) and scandium (Sc) were selected as on-line (instrument based) internal standards (IS) and gallium (Ga) as the off-line (sample based) IS. The method was validated through linearity, accuracy and imprecision studies as well as enrolment into the Royal College of Pathologists of Australasia Quality Assurance Program (RCPAQAP) for sweat electrolyte testing. Two variations of the ICP-MS method were developed, an on-line and off-line IS, and compared. Linearity was determined up to 225 mmol/L with a limit of quantitation of 7.4 mmol/L. The off-line IS demonstrated inc...

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition

European Journal of Medical Genetics, Dec 1, 2020

Please refer to published version for the most recent bibliographic citation information. If a pu... more

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‘No thanks’—reasons why pregnant women declined an offer of cystic fibrosis carrier screening

Journal of Community Genetics, May 29, 2013

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

European Journal of Human Genetics, May 26, 2010

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Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening

European Journal of Human Genetics, Nov 20, 2013