Genetic Counselling

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Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Freeman, L Archibald, AD Dive, L Delatycki, MB Kirk, EP Laing, N Newson, AJ

Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at populati...

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Parents’ perspectives on conversations about prognosis and an assessment of prognostic information available online: A mixed-methods study

Gokoolparsadh, A Bourne, M McEwen, A Amor, DJ Turbitt, E

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Cancer genetic counseling via telegenetics and telephone: A qualitative study exploring the experience of patients and genetic counselors in an Australian cancer genetics context.

Finney, J Fargas, V Gonzalez, T Taylor, N Wakefield, CE Tucker, K Turbitt, E Williams, R

The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemi...

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The mutuality account of parenthood: a subjective approach to parent-child relationships.

Holmes, I McDougall, R

Stimulated by development of reproductive technologies, many current bioethical accounts of parenthood focus on defining parenthood at or around birth. They tend to exclude from their scope some pa...

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Beyond severity: utility as a criterion for setting the scope of RGCS

Dive, L Laberge, A-M Freeman, L Bunnik, E

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Becoming agents for genomic change: genetic counsellors' views of patient care and implementation influences when genomics is mainstreamed.

Do, TT Martyn, M McClaren, B McEwen, A Gaff, C

Genetic counsellors (GCs) across the world are increasingly transitioning beyond clinical genetics services to meet the growing demands for genomic healthcare. This presents a unique opportunity fo...

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Beyond severity: Utility as a criterion for setting the scope of RGCS

Dive, L Laberge, A-M Freeman, L Bunnik, E

Reproductive genetic carrier screening (RGCS) allows prospective parents to identify and act upon their chances of having a child with a genetic condition. In deciding which genetic conditions to i...

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Race, ethnicity, and ancestry reporting in genetic counseling research: A focused mapping review and synthesis.

Arpone, M Turbitt, E McEwen, A

Studies on the use of Race, Ethnicity, and Ancestry (REA) concepts and terms in genetic research are limited. We aimed to describe the collection, reporting, and use of REA data in genetic counseli...

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The Parent PrU: A measure to assess personal utility of pediatric genomic results.

Turbitt, E Kohler, JN Brothers, KB Outram, SM Rini, C Sahin-Hodoglugil, N Leo, MC Biesecker, BB

PURPOSE: We aimed to adapt and validate an existing patient-reported outcome measure, the personal-utility (PrU) scale, for use in the pediatric genomic context. METHODS: We adapted the adult versi...

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Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions

Turbitt, E Callinan, E Shakes, P McEwen, A Amor, DJ

Purpose of Review: We sought to summarise recent research on prognostication in genetic neurodevelopmental conditions, focusing on parent preferences for prognostic conversations. We further aimed ...

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