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Article ; Online: Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions.

Chaouch, Amina / Ulph, Fiona / Alder, James / Hamdalla, Hisham / Ealing, John / Clancy, Tara / Macleod, Rhona / Clarke, Angus John

European journal of human genetics : EJHG

2024 Volume 32, Issue 3, Page(s) 260–262

MeSH term(s)	Humans ; Whole Genome Sequencing ; Informed Consent
Language	English
Publishing date	2024-01-04
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01520-8
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Article ; Online: A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions.

Clancy, Tara

Familial cancer

2009 Volume 9, Issue 1, Page(s) 9–14

Abstract: Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary ...

Abstract	Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary breast and ovarian cancer, raise a number of ethical issues. Some of these are the same as for conditions which present early in childhood, are fully penetrant and for which no/limited treatment options are possible; others relate to whether reduced penetrance and/or the availability of treatment mean that these are not serious (enough) conditions to warrant tests prior to/during pregnancy or to justify termination of pregnancy. However, attempts to reach a consensus on what counts as a serious (enough) condition in the context of PND and PGD have been unsuccessful. Such a definition may anyway be unhelpful if it cannot also take into account, for example, the woman's/couple's awareness and experience of the condition and the impact of the condition on affected individuals and their families. Individuals affected by, or at high risk of, later onset and/or reduced penetrance inherited cancer predispositions are generally supportive of access to PND and PGD for their own conditions, even if they would not consider using it themselves. Professionals working in clinical cancer genetics need to be prepared to discuss PND and PGD with this group of patients.
MeSH term(s)	Attitude to Health/ethnology ; Family Characteristics ; Female ; Genes, BRCA1/physiology ; Genetic Predisposition to Disease/genetics ; Humans ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Pregnancy ; Preimplantation Diagnosis/ethics ; Preimplantation Diagnosis/methods ; Prenatal Diagnosis/ethics ; Prenatal Diagnosis/methods ; Risk Assessment/methods ; Surveys and Questionnaires
Language	English
Publishing date	2009-07-31
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-009-9271-7
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Article ; Online: Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.

Bakur, Khadijah H / Al-Aama, Jumana Y / Alhassnan, Zuhair N / Brooks, Helen / Clancy, Tara / Manea, Waleed / Takroni, Saud A / Ulph, Fiona

Journal of genetic counseling

2022 Volume 31, Issue 4, Page(s) 922–936

Abstract: Genetic services are rapidly growing in the Arab world leading to increasing number of patients being diagnosed with genetic disorders. Islam is the only/major religion of the local population in these countries. Muslim patients integrate religion in ... ...

Abstract	Genetic services are rapidly growing in the Arab world leading to increasing number of patients being diagnosed with genetic disorders. Islam is the only/major religion of the local population in these countries. Muslim patients integrate religion in virtually every aspect of their lives, and it is vital to understand the role of Islam on their coping and decision-making in the context of genetic counseling. This will help provide patients with the most appropriate services aligned to their religious beliefs and will improve outcomes. Increasing numbers of patients are being diagnosed with Long QT syndrome in Saudi Arabia. Using semi-structured interviews, this study explored the role of Islam on the lived experience of 13 Saudi participants diagnosed with autosomal dominant Long QT syndrome (3/13) or who are carriers of Jervell and Lange-Nielsen syndrome (10/13). The interviews investigated how they made sense of living with the condition in light of their religion/spirituality. The data were analyzed using interpretative phenomenological analysis and produced four superordinate themes: 1) Common belief and idiosyncratic interpretation; 2) Using religion to justify positive reframing of current illnesses; 3) Interplay between belief in medicine and in religion; and 4) Complex impact of diagnosis on religiosity. The results show that the participants' idiosyncratic interpretations of the religious principles, not the principles themselves, had an important influence on their coping, medical decision-making, perceptions regarding the cause of their disease, and compliance with medical advice. A novel insight of the current study is that the personal understanding and interpretation of medical information played the greatest role in the decision-making process, and not the religious beliefs. Thus, it is important for health professionals to give patients' information in a manner that is clear and detailed in order for them to facilitate an informed decision, and to ensure that they fully understand the implications.
MeSH term(s)	Adaptation, Psychological ; Humans ; Islam ; Long QT Syndrome ; Saudi Arabia
Language	English
Publishing date	2022-02-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	1117799-8
ISSN	1573-3599 ; 1059-7700
ISSN (online)	1573-3599
ISSN	1059-7700
DOI	10.1002/jgc4.1562
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Article ; Online: 30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.

Woodward, Emma R / Green, Kate / Burghel, George J / Bulman, Michael / Clancy, Tara / Lalloo, Fiona / Schlecht, Helene / Wallace, Andrew J / Evans, D Gareth

European journal of human genetics : EJHG

2021 Volume 30, Issue 4, Page(s) 413–419

Abstract: It is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer prevention, early detection and targeted treatments in index cases and at-risk family ...

Abstract	It is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer prevention, early detection and targeted treatments in index cases and at-risk family members. Here, we present time trends (1990-2020) of identification of index cases with a germline CPG variant and numbers of subsequent cascade tests, for 15 high-risk breast and gastro-intestinal tract cancer-associated CPGs: BRCA1, BRCA2, PALB2, PTEN, TP53, APC, BMPR1a, CDH1, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11 and MUTYH. We recorded 2082 positive index case diagnostic screening tests, generating 3216 positive and 3140 negative family cascade (non-index) tests. This is equivalent to an average of 3.05 subsequent cascade tests per positive diagnostic index test, with 1.54 positive and 1.51 negative non-index tests per family. The CPGs with the highest numbers of non-index positive cases identified on cascade testing were BRCA1/2 (n = 1999) and the mismatch repair CPGs associated with Lynch Syndrome (n = 731). These data are important for service provision and health economic assessment of CPG diagnostic testing, in terms of cancer prevention and early detection strategies, and identifying those likely to benefit from targeted treatment strategies.
MeSH term(s)	Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; DNA Mismatch Repair/genetics ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans
Language	English
Publishing date	2021-12-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-021-01011-8
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Article ; Online: Surgical Outcome Measures in a Cohort of Patients at High Risk of Breast Cancer Treated by Bilateral Risk-Reducing Mastectomy and Breast Reconstruction.

Gandhi, Ashu / Duxbury, Paula / Clancy, Tara / Lalloo, Fiona / Wisely, Julie A / Kirwan, Cliona C / Foden, Philip / Stocking, Katie / Howell, Anthony / Evans, D Gareth

Plastic and reconstructive surgery

2022 Volume 150, Issue 3, Page(s) 496e–505e

Abstract: Background: Women with breast cancer-related genetic pathogenic variants (e.g., BRCA1 , BRCA2 ) or with a strong family history carry lifetime risks of developing breast cancer of up to 80 to 90 percent. A significant proportion of these women proceed ... ...

Abstract	Background: Women with breast cancer-related genetic pathogenic variants (e.g., BRCA1 , BRCA2 ) or with a strong family history carry lifetime risks of developing breast cancer of up to 80 to 90 percent. A significant proportion of these women proceed to bilateral risk-reducing mastectomy. The authors aimed to document the surgical morbidity of risk-reducing mastectomy and establish whether a diagnosis of breast cancer at the time of surgery impacted outcomes. Methods: Clinical details of 445 women identified as having a greater than 25 percent lifetime risk of developing breast cancer who underwent risk-reducing mastectomy and breast reconstruction were interrogated for surgical outcomes such as planned, unplanned, and emergency procedures; complication rates; length of stay; and longevity of breast reconstruction. These outcome measures were recorded in women diagnosed with breast cancer perioperatively (cancer group) and those without malignancy (benign group). Results: Median follow-up was similar in both groups (benign group, 70 months; cancer group, 73 months). Patients were older in the cancer group than in the benign group (43 years versus 39 years; p < 0.001). Women in the cancer group required more planned procedures to complete reconstruction than those in the benign group (four versus two; p = 0.002). Emergency procedures, unplanned surgical interventions (e.g., capsulectomy), and postreconstruction complication rates were similar between groups. One in five women overall required revision surgery. Patients with autologous reconstructions had a revision rate of 1.24 per 1000 person-years compared with 2.52 per 1000 person-years in the implant reconstruction group. Conclusions: Women contemplating risk-reducing mastectomy can be reassured that this is a safe and effective procedure but will likely take multiple interventions. This knowledge should be integral to obtaining informed consent. Clinical question/level of evidence: Risk, II.
MeSH term(s)	Breast Neoplasms/pathology ; Female ; Humans ; Mammaplasty/methods ; Mastectomy/adverse effects ; Outcome Assessment, Health Care ; Postoperative Complications/epidemiology ; Postoperative Complications/etiology ; Postoperative Complications/prevention & control ; Treatment Outcome
Language	English
Publishing date	2022-06-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	208012-6
ISSN	1529-4242 ; 0032-1052 ; 0096-8501
ISSN (online)	1529-4242
ISSN	0032-1052 ; 0096-8501
DOI	10.1097/PRS.0000000000009383
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Article ; Online: The impact of risk-reducing gynaecological surgery in premenopausal women at high risk of endometrial and ovarian cancer due to Lynch syndrome.

Moldovan, Ramona / Keating, Sianan / Clancy, Tara

Familial cancer

2014 Volume 14, Issue 1, Page(s) 51–60

Abstract: Women with Lynch syndrome (LS) have a significantly increased lifetime risk of endometrial cancer (40-60 %) and ovarian cancer (7-12 %). Currently there is little evidence to support the efficacy of screening for the early detection of these cancers. ... ...

Abstract	Women with Lynch syndrome (LS) have a significantly increased lifetime risk of endometrial cancer (40-60 %) and ovarian cancer (7-12 %). Currently there is little evidence to support the efficacy of screening for the early detection of these cancers. Another option is risk-reducing hysterectomy and/or bilateral salpingo-oophorectomy (BSO). Research on the impact of BSO in premenopausal women with a non-LS associated family history cancer has generally shown that women have a high level of satisfaction about their decision to undergo surgery. However, debilitating menopausal symptoms and sexual dysfunction are common post-surgical problems. We used a mixed methods study to explore the impact of risk-reducing gynaecological surgery in women with LS: 24 women were invited to take part; 15 (62.5 %) completed validated questionnaires and 12 (50 %) participated in semi-structured interviews. Our results suggest that risk reducing surgery does not lead to significant psychological distress and the women tend not to think or worry much about developing cancer. However, they tend to be distressed about the physical and somatic symptoms associated with menopause; their social well-being is somewhat affected, but sexual difficulties are minimal. The women reported being overwhelmingly satisfied with their decision to have surgery and with the quality of information they received prior to the operation. However, they felt underprepared for menopausal symptoms and received conflicting advice about whether or not to use HRT. Recommendations from the study include that professionals discuss the menopause, its side effects and HRT in detail prior to surgery.
MeSH term(s)	Adult ; Endometrial Neoplasms/genetics ; Endometrial Neoplasms/prevention & control ; Evaluation Studies as Topic ; Female ; Genetic Predisposition to Disease ; Humans ; Hysterectomy/adverse effects ; Hysterectomy/psychology ; Interviews as Topic ; Lynch Syndrome II/complications ; Middle Aged ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/prevention & control ; Ovariectomy/adverse effects ; Ovariectomy/psychology ; Patient Satisfaction ; Premenopause ; Prophylactic Surgical Procedures/adverse effects ; Prophylactic Surgical Procedures/psychology ; Salpingectomy/adverse effects ; Salpingectomy/psychology ; Surveys and Questionnaires
Language	English
Publishing date	2014-10-24
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-014-9761-0
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Article ; Online: Genetic testing from different angles. Introduction.

Lucassen, Anneke / Clancy, Tara

Familial cancer

2010 Volume 9, Issue 1, Page(s) 1

MeSH term(s)	Female ; Genetic Carrier Screening/instrumentation ; Genetic Carrier Screening/methods ; Genetic Testing/methods ; Humans ; Infant ; Infant Nutritional Physiological Phenomena/physiology
Language	English
Publishing date	2010-03
Publishing country	Netherlands
Document type	Introductory Journal Article
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-010-9322-0
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Article: Arsenic Waste Management: A Critical Review of Testing and Disposal of Arsenic-Bearing Solid Wastes Generated during Arsenic Removal from Drinking Water

Clancy, Tara M / Hayes Kim F / Raskin Lutgarde

Environmental Science & Technology. 2013 Oct. 01, v. 47, no. 19

2013

Abstract: Water treatment technologies for arsenic removal from groundwater have been extensively studied due to widespread arsenic contamination of drinking water sources. Central to the successful application of arsenic water treatment systems is the ... ...

Abstract	Water treatment technologies for arsenic removal from groundwater have been extensively studied due to widespread arsenic contamination of drinking water sources. Central to the successful application of arsenic water treatment systems is the consideration of appropriate disposal methods for arsenic-bearing wastes generated during treatment. However, specific recommendations for arsenic waste disposal are often lacking or mentioned as an area for future research and the proper disposal and stabilization of arsenic-bearing waste remains a barrier to the successful implementation of arsenic removal technologies. This review summarizes current disposal options for arsenic-bearing wastes, including landfilling, stabilization, cow dung mixing, passive aeration, pond disposal, and soil disposal. The findings from studies that simulate these disposal conditions are included and compared to results from shorter, regulatory tests. In many instances, short-term leaching tests do not adequately address the range of conditions encountered in disposal environments. Future research directions are highlighted and include establishing regulatory test conditions that align with actual disposal conditions and evaluating nonlandfill disposal options for developing countries.
Keywords	aeration ; arsenic ; cattle manure ; developing countries ; drinking water ; groundwater ; leaching ; mixing ; soil ; solid wastes ; waste disposal ; water treatment
Language	English
Dates of publication	2013-1001
Size	p. 10799-10812.
Publishing place	American Chemical Society
Document type	Article
ISSN	1520-5851
DOI	10.1021%2Fes401749b
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Uptake of bilateral-risk-reducing-mastectomy: Prospective analysis of 7195 women at high-risk of breast cancer.

Evans, D Gareth / Gandhi, Ashu / Wisely, Julie / Clancy, Tara / Woodward, Emma R / Harvey, James / Highton, Lyndsey / Murphy, John / Barr, Lester / Howell, Sacha J / Lalloo, Fiona / Harkness, Elaine F / Howell, Anthony

Breast (Edinburgh, Scotland)

2021 Volume 60, Page(s) 45–52

Abstract: Background: Bilateral-Risk-Reducing-Mastectomy-(BRRM) is well described in BRCA1/2 pathogenic variant carriers. However, little is known about the relative uptake, time trends or factors influencing uptake in those at increased breast cancer risk not ... ...

Abstract	Background: Bilateral-Risk-Reducing-Mastectomy-(BRRM) is well described in BRCA1/2 pathogenic variant carriers. However, little is known about the relative uptake, time trends or factors influencing uptake in those at increased breast cancer risk not known to be carriers. The aim of this study is to assess these factors in both groups. Methods: BRRM uptake was assessed from entry to the Manchester Family History Clinic or from date of personal BRCA1/2 test. Follow up was censored at BRRM, breast cancer diagnosis, death or January 01, 2020. Cumulative incidence and cause specific and competing risk regression analyses were used to assess the significance of factors associated with BRRM. Results: Of 7195 women at ≥25% lifetime breast cancer risk followed for up to 32 years, 451 (6.2%) underwent pre-symptomatic BRRM. Of those eligible in different risk groups the 20-year uptake of BRRM was 47.7%-(95%CI = 42.4-53.2%) in 479 BRCA1/2 carriers; 9.0% (95%CI = 7.26-11.24%) in 1261 women at ≥40% lifetime risk (non-BRCA), 4.8%-(95%CI = 3.98-5.73%) in 3561 women at 30-39% risk and 2.9%-(95%CI = 2.09-4.09%) in 1783 women at 25-29% lifetime risk. In cause-specific Cox regression analysis death of a sister with breast cancer<50 (OR = 2.4; 95%CI = 1.7-3.4), mother<60 (OR = 1.9; 95%CI = 1.5-2.3), having children (OR = 1.4; 95%CI = 1.1-1.8), breast biopsy (OR = 1.4; 95%CI = 1.0-1.8) were all independently associated with BRRM uptake, while being older at assessment was less likely to be associated with BRRM (>50; OR = 0.26,95%CI = 0.17-0.41). Uptake continued to rise to 20 years from initial risk assessment. Conclusion: We have identified several additional factors that correlate with BRRM uptake and demonstrate continued increases over time. These factors will help to tailor counselling and support for women.
MeSH term(s)	Breast Neoplasms/epidemiology ; Breast Neoplasms/surgery ; Child ; Female ; Heterozygote ; Humans ; Incidence ; Mastectomy ; Mutation ; Risk Assessment
Language	English
Publishing date	2021-08-26
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1143210-x
ISSN	1532-3080 ; 0960-9776
ISSN (online)	1532-3080
ISSN	0960-9776
DOI	10.1016/j.breast.2021.08.015
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Article ; Online: Arsenic waste management: a critical review of testing and disposal of arsenic-bearing solid wastes generated during arsenic removal from drinking water.

Clancy, Tara M / Hayes, Kim F / Raskin, Lutgarde

Environmental science & technology

2013 Volume 47, Issue 19, Page(s) 10799–10812

Abstract	Water treatment technologies for arsenic removal from groundwater have been extensively studied due to widespread arsenic contamination of drinking water sources. Central to the successful application of arsenic water treatment systems is the consideration of appropriate disposal methods for arsenic-bearing wastes generated during treatment. However, specific recommendations for arsenic waste disposal are often lacking or mentioned as an area for future research and the proper disposal and stabilization of arsenic-bearing waste remains a barrier to the successful implementation of arsenic removal technologies. This review summarizes current disposal options for arsenic-bearing wastes, including landfilling, stabilization, cow dung mixing, passive aeration, pond disposal, and soil disposal. The findings from studies that simulate these disposal conditions are included and compared to results from shorter, regulatory tests. In many instances, short-term leaching tests do not adequately address the range of conditions encountered in disposal environments. Future research directions are highlighted and include establishing regulatory test conditions that align with actual disposal conditions and evaluating nonlandfill disposal options for developing countries.
MeSH term(s)	Arsenic/analysis ; Environmental Pollutants/analysis ; Refuse Disposal/methods ; Solid Waste/analysis ; Water Purification
Chemical Substances	Environmental Pollutants ; Solid Waste ; Arsenic (N712M78A8G)
Language	English
Publishing date	2013-10-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ISSN	1520-5851
ISSN (online)	1520-5851
DOI	10.1021/es401749b
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