Patient Satisfaction with Private Genetic Counselling for Familial Cancer in Western Australia: A Prospective Audit

Background: In clinical routine, not every patient who is offered genetic counselling and diagnostics in order to investigate a familial cancer risk predisposition opts for it. Little is known about acceptance of counselling and testing in newly diagnosed breast cancer cases in Germany. Methods: All primary breast cancer cases and patients with DCIS (ductal carcinoma in situ) treated at the University Hospital of Dresden between 2016 and 2019 were included. The number of tumor board recommendations for genetic counselling on the basis of the GC-HBOC risk criteria was recorded. Acceptance was analyzed by number of cases with counselling in the GC-HBOC-Center Dresden. Results: Of 996 primary breast cancer and DCIS cases, 262 (26.3%) were eligible for genetic counselling. Recommendation for genetic counselling was accepted by 64.1% (168/262). Of these 90.5% (152/168) opted for molecular genetic analysis. The acceptance rate for counselling increased between 2016 and 2019 from 58.3 to 72.6%. Altogether, 20.4% (31/152) patients were found to carry a pathogenic variant in the breast cancer genes BRCA1 or BRCA2. Conclusion: Acceptance of recommendation is increasing as clinical consequences augment. Optimization in providing information about hereditary cancer risk and in accessibility of counselling and testing is required to further improve acceptance of recommendation.

Download Full-text

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia

The Medical Journal of Australia ◽

10.5694/j.1326-5377.1995.tb140006.x ◽

1995 ◽

Vol 162 (9) ◽

pp. 464-467 ◽

Cited By ~ 9

Author(s):

Ian R Walpole ◽

Jack Goldblatt ◽

Deborah A Kool ◽

Ted Edkins ◽

Rhona Creegan ◽

...

Keyword(s):

Familial Adenomatous Polyposis ◽

Gene Mutation ◽

Genetic Counselling ◽

Mutation Analysis ◽

Western Australia ◽

Adenomatous Polyposis ◽

Gene Mutation Analysis

Download Full-text

Familial cancer syndromes and genetic counselling

Oxford Textbook of Oncology ◽

10.1093/med/9780199656103.003.0031 ◽

2016 ◽

pp. 276-290

Author(s):

Henry T. Lynch ◽

Carrie L. Snyder ◽

Jane F. Lynch

Keyword(s):

Colorectal Cancer ◽

Molecular Genetics ◽

Genetic Counselling ◽

Hereditary Cancer ◽

Genetic Model ◽

Familial Cancer ◽

Hereditary Cancer Syndromes ◽

Clinical Genetic ◽

Familial Cancer Syndromes ◽

Cancer Syndromes

Thanks to the veritably logarithmic advances in the molecular genetics of many emerging hereditary cancer syndromes, genetic counselling has become of paramount importance. It is a key element of the emerging concepts for patient education and management, which have become the clinical bedrock for diagnosis and management of hereditary cancer. Genetic counsellors have become proficient in the understanding of the complexities of molecular genetics in relation to hereditary cancer syndromes, demonstrating their ability both to supplement and replace the customary physician’s role in this overall process. We have used colorectal cancer, in particular Lynch syndrome, as a clinical genetic model based on the authors’ experience with diagnosis, DNA testing, and counselling of thousands of families for over four decades. Undoubtedly, the surface of the proverbial iceberg has barely been grazed in regard to the developments for the genetic counseling discipline.

Download Full-text

Implications of conflicting definitions of probability to health risk communication: a case study of familial cancer and genetic counselling

Australian Health Review ◽

10.1071/ah070024 ◽

2007 ◽

Vol 31 (1) ◽

pp. 24 ◽

Cited By ~ 1

Author(s):

Kieran C O'Doherty

Keyword(s):

Clinical Practice ◽

Health Risk ◽

Risk Communication ◽

Genetic Counselling ◽

Health Professionals ◽

Health Research ◽

Familial Cancer ◽

Health Sciences ◽

Research And Practice

The question of what probability actually is has long been debated in philosophy and statistics. Although the concept of probability is fundamental to many applications in the health sciences, these debates are generally not well known to health professionals. This paper begins with an outline of some of the different interpretations of probability. Examples are provided of how each interpretation manifests in clinical practice. The discipline of genetic counselling (familial cancer) is used to ground the discussion. In the second part of the paper, some of the implications that different interpretations of probability may have in practice are examined. The main purpose of the paper is to draw attention to the fact that there is much contention as to the nature of the concept of probability. In practice, this creates the potential for ambiguity and confusion. This paper constitutes a call for deeper engagement with the ways in which probability and risk are understood in health research and practice.

Download Full-text

A Prospective Audit of Endoscopic Vein Harvesting for Coronary Artery Bypass Surgery

Annals of The Royal College of Surgeons of England ◽

10.1308/003588409x392171 ◽

2009 ◽

Vol 91 (5) ◽

pp. 426-429 ◽

Cited By ~ 3

Author(s):

Zakariya Waqar-Uddin ◽

Manoj Purohit ◽

Nadene Blakeman ◽

Joseph Zacharias

Keyword(s):

Patient Satisfaction ◽

Coronary Artery ◽

Coronary Artery Bypass ◽

Saphenous Vein ◽

Coronary Artery Bypass Surgery ◽

Artery Bypass ◽

Prospective Audit ◽

Endoscopic Vein Harvesting ◽

Long Saphenous Vein ◽

Vein Harvesting

INTRODUCTION The objectives of this study were to: (i) assess the feasibility of minimally invasive endoscopic harvesting of the long saphenous vein or radial artery for use as conduit during coronary artery bypass surgery in the NHS setting; and (ii) investigate the results of endoscopic vein harvesting with regards to postoperative complications, ability to mobilise, and patient satisfaction. PATIENTS AND METHODS In this prospective audit, 25 consecutive patients, aged 52–90 years, undergoing either coronary artery bypass grafting alone or together with valve surgery or atrial fibrillation ablation were studied. All data were entered in purpose-designed proforma. Pre-operative risk factors including increasing age, diabetes, peripheral vascular disease, obesity, renal impairment, tobacco consumption and steroid use were documented. Time taken for harvest and conversion to traditional open vein harvest, quality of harvested vein in terms of number of repairs and vein damage were recorded. Postoperatively, we recorded harvest site wound complications, number of days to mobilise and total hospital stay. Pain score and patient satisfaction were also assessed. RESULTS There was one death due to myocardial infarction; another patient had postoperative cerebrovascular accident. A total of 43 lengths of grafts were harvested, 41 were long saphenous vein and two radial artery. Vein harvest time reduced significantly from a maximum of 94 min to 34 min for two lengths of long saphenous vein. Three patients required conversion from endoscopic vein harvesting to open vein harvest. The only postoperative complication directly related to endoscopic harvesting was bruising along the tunnel created by the passage of the instruments. None of the patients had any wound complication; none required antibiotics or wound debridement. Mean time to mobilise was 3.4 days. All patients who underwent successful endoscopic vein harvesting expressed satisfaction with regards to postoperative pain and cosmetic result. CONCLUSIONS Competence and ability to harvest conduit in an acceptable time frame are obtainable after a relatively low number of cases. The procedure is associated with a low number of postoperative complications and very high patient satisfaction.

Download Full-text