Impact of direct-to-consumer genetic testing on Australian clinical genetics services

AbstractPurposeThe increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic health services worldwide. However, no studies have collected recent evidence regarding the extent of this impact in Australia.MethodsWe administered an online survey to Australian clinical genetics services, asking questions related to DTCGT-related referrals received and outcomes over the past 10 years.ResultsEleven publicly-funded clinical genetics services completed the survey, reporting over 100 DTCGT-related referrals. Most referrals (83%) were made by general practitioners seeking interpretation of DTCGT results. More than 30% of referrals related to imputed genetic risk estimates generated from third-party web-based software tools. Services reported low validation rates for DTCGT results (<10%). Procedures for managing DTCGT referrals and granting appointments were variable between services, with most services (8/11) lacking specific procedures.ConclusionOur study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed genetic risk estimates generated from third-party software.

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A Key Role for the Genetic Counsellor in the Genomics Era

F1000Research ◽

10.12688/f1000research.14222.2 ◽

2018 ◽

Vol 7 ◽

pp. 420

Author(s):

Flora M. Joseph

Keyword(s):

Genetic Testing ◽

Exome Sequencing ◽

Clinical Genetics ◽

Genetic Counsellor ◽

Diagnostic Potential ◽

Whole Exome ◽

Genetics Services ◽

Testing Techniques ◽

Clinical Genetics Services ◽

The Uk

New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques. With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide. However, limitations remain and a proportion of individuals will continue to remain undiagnosed. In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments. In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support. I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that this kind of service should be prioritised, for the benefit of these families.

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The possible implications of advances in genetic testing technologies for Genetic Counsellors working with families of children with developmental disorders

F1000Research ◽

10.12688/f1000research.14222.1 ◽

2018 ◽

Vol 7 ◽

pp. 420

Author(s):

Flora M. Joseph

Keyword(s):

Genetic Testing ◽

Developmental Disorders ◽

Clinical Genetics ◽

Genetic Counsellor ◽

Diagnostic Potential ◽

Whole Exome ◽

Genetics Services ◽

Testing Techniques ◽

Clinical Genetics Services ◽

The Uk

New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques. With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide. However, limitations remain and a proportion of individuals will continue to remain undiagnosed. In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments. In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support. I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that these resources should be fought for, for the benefit of these families.

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Patient advice and reference

Endocrinology (Oxford Desk Reference) ◽

10.1093/med/9780199672837.003.0019 ◽

2018 ◽

pp. 467-479

Author(s):

Helen E. Turner ◽

Richard Eastell ◽

Ashley Grossman

Keyword(s):

Genetic Testing ◽

Genetic Counselling ◽

Mineral Metabolism ◽

Genetic Disorder ◽

Clinical Genetics ◽

Patient Support ◽

Genetics Services ◽

Clinical Genetics Services ◽

Patient Advice ◽

The Uk

This chapter provides simplified figures and diagrams to help explain common hormonal conditions to patients in clinic, as well as resources on bone and mineral metabolism, such as the National Osteoporosis Society (commonly abbreviated as NOS) in the UK. It discusses clinical genetics services, including genetic testing and genetic counselling, which is defined as ‘a communications process which deals with human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family’. The chapter also provides information on resources for travel advice and other forms of patient support. In addition, it enumerates services offered to better understand endocrine-related disorders, testing options, education materials, and treatments.

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Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years

Journal of Medical Genetics ◽

10.1136/jmedgenet-2021-107742 ◽

2021 ◽

pp. jmedgenet-2021-107742

Author(s):

Alice Garrett ◽

Sabrina Talukdar ◽

Louise Izatt ◽

Angela F Brady ◽

Sinead Whyte ◽

...

Keyword(s):

Breast Cancer ◽

Family History ◽

Pathogenic Variant ◽

Her2 Status ◽

Clinical Genetics ◽

Premenopausal Breast Cancer ◽

Genetic Test Results ◽

Genetics Services ◽

Clinical Genetics Services ◽

The Impact

BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is recommended in PV carriers.Objectives1. To assess the frequency of germline TP53 PVs reported diagnostically in women with breast cancer at <30 years of age.2. To evaluate the impact of personal/family history and HER2 status on the likelihood of germline TP53 pathogenic/likely pathogenic variant (PV/LPV) identification.MethodsGenetic test results from patients undergoing diagnostic germline TP53 tests between 2012 and 2017 in the four London Regional Clinical Genetics Services were reviewed. Clinical/pathology data and family history were extracted from genetics files for women diagnosed with breast cancer at <30 years.ResultsThe overall germline TP53 PV/LPV variant detection rate was 9/270=3.3% in all women diagnosed with breast cancer at <30 years and 2/171=1.2% in those with no second/subsequent cancer diagnosis or family history of TP53-spectrum cancers. Breast cancers were significantly more likely to be HER2-positive in TP53 PV/LPV carriers than in non-carriers (p=0.00006).ConclusionsGermline TP53 PVs/LPVs are uncommon among women diagnosed with breast cancer aged <30 years without other relevant personal or family cancer history but have an important clinical impact when identified.

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