title: Confirmed versus suspected: The social significance of a genetic or non-genetic diagnosis of mitochondrial disease.
abstract: This study assessed attitudes and beliefs regarding the importance of a genetic versus non-genetic diagnosis within the mitochondrial disease community. Survey respondents were categorized into two groups - those with a genetic diagnosis, and those with a non-genetic diagnosis of mitochondrial disease. We found that while both groups perceive problems with the support available to adult mitochondrial disease patients, the non-genetic group experiences less medical and social support due to lack of a definitive diagnosis. Understanding the efficacy of existing resources for mitochondrial disease sub-groups will allow for the development or improvement of resources designed to meet patient needs.
authors.affiliation: Boston University School of Medicine, Genetic Counseling Program, Boston, USA. Electronic address: ekrieg@partners.org.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Krieg
authors.affiliation: Boston University School of Medicine, Genetic Counseling Program, Boston, USA.
authors.forename: Laurel
authors.initials: L
authors.lastname: Calderwood
authors.affiliation: Boston University School of Medicine, Genetic Counseling Program, Boston, USA.
authors.forename: MaryAnn
authors.initials: M
authors.lastname: Campion
authors.affiliation: Boston University School of Medicine, Genetic Counseling Program, Boston, USA.
authors.forename: Katherine E
authors.initials: KE
authors.lastname: Krepkovich
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015510:Clinical Medicine / Q000379:methods*; D003955:Diagnostic Tests, Routine; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy*; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D012944:Social Support; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Adult patient population; Diagnosis; Genetic testing; Mitochondrial disease; Patient experience; Physician education