Jodie Ingles

Publications (29) View all

• Article: Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life.

  Jodie Ingles, Laura Yeates, Lisa O'Brien, Julie McGaughran, Paul A Scuffham, John Atherton, Christopher Semsarian
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  ABSTRACT: Purpose:A genetic diagnosis is an extremely useful tool in the management and care of families with inherited heart diseases, particularly in allowing clarification of risk status of asymptomatic family members. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal pilot study sought to determine changes in health-related quality of life in patients and asymptomatic family members undergoing genetic testing for inherited heart diseases.Methods:Individuals attending two specialized multidisciplinary cardiac genetic clinics in Australia were invited to participate. Patients undergoing proband or predictive genetic testing for an inherited cardiomyopathy or primary arrhythmogenic disorder were eligible. The Medical Outcomes Short Form-36 (version 2) was administered before the genetic result was given, and follow-up surveys were completed 1-3, 6, and 12 months after the result was given.Results:A total of 54 individuals with hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and long QT syndrome completed baseline and at least one follow-up survey, including 33 probands and 21 asymptomatic relatives. Physical and mental component scores analyzed at baseline and 1-3 months were found to be unchanged in all groups. Furthermore, no significant differences were observed up to 12 months after result.Conclusion:In this longitudinal pilot study, no change in health-related quality of life was observed up to 12 months after the result was given in patients and their asymptomatic family members undergoing genetic testing for an inherited heart disease.Genet Med 2012 advance online publication 3 May 2012.
  Genetics in medicine: official journal of the American College of Medical Genetics 05/2012; · 3.92 Impact Factor
• Article: A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy.

  Jodie Ingles, Julie McGaughran, Paul A Scuffham, John Atherton, Christopher Semsarian
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  ABSTRACT: Traditional management of families with hypertrophic cardiomyopathy (HCM) involves periodic lifetime clinical screening of family members, an approach that does not identify all gene carriers owing to incomplete penetrance and significant clinical heterogeneity. Limitations in availability and cost have meant genetic testing is not part of routine clinical management for many HCM families. To determine the cost-effectiveness of the addition of genetic testing to HCM family management, compared with clinical screening alone. A probabilistic Markov decision model was used to determine cost per quality-adjusted life-year and cost for each life-year gained when genetic testing is included in the management of Australian families with HCM, compared with the conventional approach of periodic clinical screening alone. The incremental cost-effectiveness ratio (ICER) was $A785 (£510 or €587) per quality-adjusted life-year gained, and $A12 720 (£8261 or €9509) per additional life-year gained making genetic testing a very cost-effective strategy. Sensitivity analyses showed that the cost of proband genetic testing was an important variable. As the cost of proband genetic testing decreased, the ICER decreased and was cost saving when the cost fell below $A248 (£161 or €185). In addition, the mutation identification rate was also important in reducing the overall ICER, although even at the upper limits, the ICER still fell well within accepted willingness to pay bounds. The addition of genetic testing to the management of HCM families is cost-effective in comparison with the conventional approach of regular clinical screening. This has important implications for the evaluation of families with HCM, and suggests that all should have access to specialised cardiac genetic clinics that can offer genetic testing.
  Heart (British Cardiac Society) 11/2011; 98(8):625-30. · 4.22 Impact Factor
• Article: Guidelines for genetic testing of inherited cardiac disorders.

  Jodie Ingles, Poonam R Zodgekar, Laura Yeates, Ivan Macciocca, Christopher Semsarian, Diane Fatkin
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  ABSTRACT: Inherited gene variants have been implicated increasingly in cardiac disorders but the clinical impact of these discoveries has been variable. For some disorders, such as familial hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia, genetic testing has a high yield and has become an integral part of family management. For other disorders, including dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and atrial fibrillation, relatively less is known about the genes involved and genetic testing has a lower yield. Recent advances in sequencing and array-based technologies promise to change the landscape of our understanding of the genetic basis of human disease and will dramatically increase the rate of detection of genomic variants. Since every individual is expected to harbour thousands of variants, many of which may be novel, interpretation of the functional significance of any single variant is critical, and should be undertaken by experienced personnel. Genotype results can have a wide range of medical and psychosocial implications for affected and unaffected individuals and hence, genetic testing should be performed in a specialised cardiac genetic clinic or clinical genetics service where appropriate family management and genetic counselling can be offered.
  Heart Lung &amp Circulation 11/2011; 20(11):681-7. · 1.20 Impact Factor
• Article: Natural history of genotype positive-phenotype negative patients with hypertrophic cardiomyopathy.

  Belinda Gray, Jodie Ingles, Christopher Semsarian
  International journal of cardiology 08/2011; 152(2):258-9. · 7.08 Impact Factor
• Article: The emerging role of the cardiac genetic counselor.

  Jodie Ingles, Laura Yeates, Christopher Semsarian
  Heart rhythm: the official journal of the Heart Rhythm Society 07/2011; 8(12):1958-62. · 4.56 Impact Factor