Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe disease have been identified; infantile- and late- onset. In the past decade, enzyme replacement therapy has shown promising results in treating the underlying pathology, resulting in improved clinical outcome. Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage have led to the proposition of introducing newborn screening for Pompe disease. All forms of Pompe disease are caused by the same pathology, and thus newborn screening has the potential to identify those affected with the more severe infantile-onset form as well as those with late-onset disease who may not present with symptoms until late in life. / The aim of this study was to investigate attitudes towards newborn screening for Pompe disease among affected adults, their family members and parents of ‘healthy’ children. Affected adults were recruited through support groups in Australia, the United Kingdom and United States; family members of affected adults were recruited from Australia; and parents of ‘healthy’ children were recruited through maternal child health clinics in Victoria, Australia. Participants completed questionnaires exploring their experiences of Pompe disease and/or newborn screening and their attitudes towards newborn screening for Pompe disease. / Support for newborn screening for Pompe disease was high among adults with Pompe disease (85.4%), parents of ‘healthy’ children (93.9%) and all three family members of affected adults who participated in this study. However, when offered a theoretical screening test that would only identify infantile-onset Pompe disease, 42.1% of adults with Pompe disease and 53.1% of parents of ‘healthy’ children preferred this screen, indicating that these stakeholders have some concerns regarding detection of late-onset disease in infancy. Factors influencing attitudes were investigated and support for newborn screening in affected adults was highly correlated with age of onset of disease; a preference to have been diagnosed in infancy; a belief that an earlier diagnosis would have made symptoms easier to cope with; and a stronger confidence in the efficacy of enzyme replacement therapy. / Potential benefits of diagnosis of late-onset disease in infancy were identified as being able to avoid the diagnosis odyssey, access enzyme replacement therapy at the optimal time, and allow individuals to make appropriate life choices. Participants identified increased anxiety in parents and the potential for over-protectiveness, in addition to possible discrimination, as harms of newborn screening for Pompe disease. / Families in which an infant is identified with the potential for late-onset Pompe disease will need assistance to adapt to and manage this diagnosis, so that anxiety is minimised and unnecessary limitations are not placed on the child. Whilst potential medical and psychosocial benefits can result from newborn screening, it is important to carefully consider the potential for harm and the resources required to appropriately manage these so that ultimately benefit outweighs harm.

Purpose and methods: Effective parental education about newborn screening (NBS) may help to maximize the benefits and minimize the harms of screening. We investigated experiences, knowledge and opinions regarding NBS education among Ontario mothers. Mothers whose infants recently received NBS were invited to complete a mailed survey (n=1712). Results: Of the 750 participants, 93% recalled their infant receiving NBS, while 69% recalled receiving information about NBS. Of this group, fewer than 50% reported receiving information prenatally, yet a majority of mothers (64%) viewed this as the most important time for education. Those who received information prenatally reported higher satisfaction (OR 2.4). The 40% of mothers who recalled being informed about the meaning of results had higher knowledge about NBS (OR 2.7) and reported higher satisfaction (OR 4.2). Conclusions: Parental education about NBS could place greater emphasis on the prenatal period and on fostering understanding about the meaning of results.

Purpose and methods: Effective parental education about newborn screening (NBS) may help to maximize the benefits and minimize the harms of screening. We investigated experiences, knowledge and opinions regarding NBS education among Ontario mothers. Mothers whose infants recently received NBS were invited to complete a mailed survey (n=1712). Results: Of the 750 participants, 93% recalled their infant receiving NBS, while 69% recalled receiving information about NBS. Of this group, fewer than 50% reported receiving information prenatally, yet a majority of mothers (64%) viewed this as the most important time for education. Those who received information prenatally reported higher satisfaction (OR 2.4). The 40% of mothers who recalled being informed about the meaning of results had higher knowledge about NBS (OR 2.7) and reported higher satisfaction (OR 4.2). Conclusions: Parental education about NBS could place greater emphasis on the prenatal period and on fostering understanding about the meaning of results.

Purpose and methods: Effective parental education about newborn screening (NBS) may help to maximize the benefits and minimize the harms of screening. We investigated experiences, knowledge and opinions regarding NBS education among Ontario mothers. Mothers whose infants recently received NBS were invited to complete a mailed survey (n=1712). Results: Of the 750 participants, 93% recalled their infant receiving NBS, while 69% recalled receiving information about NBS. Of this group, fewer than 50% reported receiving information prenatally, yet a majority of mothers (64%) viewed this as the most important time for education. Those who received information prenatally reported higher satisfaction (OR 2.4). The 40% of mothers who recalled being informed about the meaning of results had higher knowledge about NBS (OR 2.7) and reported higher satisfaction (OR 4.2). Conclusions: Parental education about NBS could place greater emphasis on the prenatal period and on fostering understanding about the meaning of results.

Introduction: Several factors have been observed to influence the value of newborn screening analytes (NBS) and should be adjusted for in the interpretation of blood spot samples. The thesis aimed to examine the association of NBS with 1) mode of delivery among term infants and 2) clinical subtypes (i.e., spontaneous onset of labour) of birth among preterm infants. Methods: A retrospective population-based cross-sectional study design was employed. A multivariable logistic regression model was used to examine associations between NBS and mode of delivery among term infants and subtypes among preterm infants. Results: 1) Metabolic profiles of infants born by planned cesarean delivery differ from those born by vaginal delivery following spontaneous onset of labour and 2) Metabolic profiles of preterm infants did not differ by clinical subtype. Conclusions: Our findings conclude that mode of delivery is an important covariate to consider in future modelling studies, but the inclusion of preterm birth subtypes is less compelling.

Purpose and methods: Effective parental education about newborn screening (NBS) may help to maximize the benefits and minimize the harms of screening. We investigated experiences, knowledge and opinions regarding NBS education among Ontario mothers. Mothers whose infants recently received NBS were invited to complete a mailed survey (n=1712). Results: Of the 750 participants, 93% recalled their infant receiving NBS, while 69% recalled receiving information about NBS. Of this group, fewer than 50% reported receiving information prenatally, yet a majority of mothers (64%) viewed this as the most important time for education. Those who received information prenatally reported higher satisfaction (OR 2.4). The 40% of mothers who recalled being informed about the meaning of results had higher knowledge about NBS (OR 2.7) and reported higher satisfaction (OR 4.2). Conclusions: Parental education about NBS could place greater emphasis on the prenatal period and on fostering understanding about the meaning of results.

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The thesis begins by examining the history of the newborn screening (NBS) process in the United States and why it is the way it is today. The next section explores why certain genetic conditions, such as Long QT Syndrome (LQTS), do not fulfill requirements for the recommended uniform screening panel (RUSP). Lastly, ethical considerations of expanded NBS in the age of genomic technology are examined by highlighting the principles of autonomy, beneficence, equity, cost-effectiveness, privacy and trust. Overall, the NBS process benefits children by identifying serious rare diseases and intervening early to prevent harm; however, a deeper ethical analysis highlights some of the concerns with expanding mandatory, universal NBS in the age of precision medicine. The focus must be on educating the public and healthcare professionals about the NBS process and using evidence-based protocols for adding new conditions to the panel. / Urban Bioethics

Objective: To describe the epidemiology and health system impact of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in Ontario. Methods: Following a review of methods to estimating robust health event rates for small populations, this study described health services use among infants diagnosed with MCADD or received a false positive newborn screening result for MCADD from April 2006 through March 2010. Each cohort was compared with screen negative infants by linking to databases encompassing physician visits, emergency department care, and hospitalizations. Results: Relative to comparison birth cohorts, children with MCADD (n=40) experienced significantly higher rates of all health service types, regardless of age at the time of visit; infants with false positive results for MCADD (n=43) experienced significantly higher rates of physician visits and hospitalizations in the first year of life only. Conclusion: This study makes an important contribution to the limited existing research describing the health system impact of rare diseases.