Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature
Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Hoskins, P.J. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018transfer abstract |
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| Schlagwörter: |
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| Umfang: |
12 |
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| Übergeordnetes Werk: |
Enthalten in: Geometric BIM verification of indoor construction sites by photogrammetric point clouds and evidence theory - Meyer, Theresa ELSEVIER, 2022, a journal of the Royal College of Radiologists, [S.l.] |
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| Übergeordnetes Werk: |
volume:30 ; year:2018 ; number:8 ; pages:472-483 ; extent:12 |
| Links: |
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| DOI / URN: |
10.1016/j.clon.2018.04.004 |
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ELV043642373 |
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| 520 | |a Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. | ||
| 520 | |a Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. | ||
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10.1016/j.clon.2018.04.004 doi GBV00000000000287A.pica (DE-627)ELV043642373 (ELSEVIER)S0936-6555(18)30213-9 DE-627 ger DE-627 rakwb eng 610 610 DE-101 610 DE-600 550 VZ 38.73 bkl 74.41 bkl Hoskins, P.J. verfasserin aut Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature 2018transfer abstract 12 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. therapy Elsevier BRCA testing Elsevier prevention Elsevier Enthalten in Saunders Meyer, Theresa ELSEVIER Geometric BIM verification of indoor construction sites by photogrammetric point clouds and evidence theory 2022 a journal of the Royal College of Radiologists [S.l.] (DE-627)ELV009071989 volume:30 year:2018 number:8 pages:472-483 extent:12 https://doi.org/10.1016/j.clon.2018.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO 38.73 Geodäsie VZ 74.41 Luftaufnahmen Photogrammetrie VZ AR 30 2018 8 472-483 12 045F 610 |
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10.1016/j.clon.2018.04.004 doi GBV00000000000287A.pica (DE-627)ELV043642373 (ELSEVIER)S0936-6555(18)30213-9 DE-627 ger DE-627 rakwb eng 610 610 DE-101 610 DE-600 550 VZ 38.73 bkl 74.41 bkl Hoskins, P.J. verfasserin aut Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature 2018transfer abstract 12 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. therapy Elsevier BRCA testing Elsevier prevention Elsevier Enthalten in Saunders Meyer, Theresa ELSEVIER Geometric BIM verification of indoor construction sites by photogrammetric point clouds and evidence theory 2022 a journal of the Royal College of Radiologists [S.l.] (DE-627)ELV009071989 volume:30 year:2018 number:8 pages:472-483 extent:12 https://doi.org/10.1016/j.clon.2018.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO 38.73 Geodäsie VZ 74.41 Luftaufnahmen Photogrammetrie VZ AR 30 2018 8 472-483 12 045F 610 |
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10.1016/j.clon.2018.04.004 doi GBV00000000000287A.pica (DE-627)ELV043642373 (ELSEVIER)S0936-6555(18)30213-9 DE-627 ger DE-627 rakwb eng 610 610 DE-101 610 DE-600 550 VZ 38.73 bkl 74.41 bkl Hoskins, P.J. verfasserin aut Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature 2018transfer abstract 12 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. therapy Elsevier BRCA testing Elsevier prevention Elsevier Enthalten in Saunders Meyer, Theresa ELSEVIER Geometric BIM verification of indoor construction sites by photogrammetric point clouds and evidence theory 2022 a journal of the Royal College of Radiologists [S.l.] (DE-627)ELV009071989 volume:30 year:2018 number:8 pages:472-483 extent:12 https://doi.org/10.1016/j.clon.2018.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO 38.73 Geodäsie VZ 74.41 Luftaufnahmen Photogrammetrie VZ AR 30 2018 8 472-483 12 045F 610 |
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10.1016/j.clon.2018.04.004 doi GBV00000000000287A.pica (DE-627)ELV043642373 (ELSEVIER)S0936-6555(18)30213-9 DE-627 ger DE-627 rakwb eng 610 610 DE-101 610 DE-600 550 VZ 38.73 bkl 74.41 bkl Hoskins, P.J. verfasserin aut Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature 2018transfer abstract 12 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. therapy Elsevier BRCA testing Elsevier prevention Elsevier Enthalten in Saunders Meyer, Theresa ELSEVIER Geometric BIM verification of indoor construction sites by photogrammetric point clouds and evidence theory 2022 a journal of the Royal College of Radiologists [S.l.] (DE-627)ELV009071989 volume:30 year:2018 number:8 pages:472-483 extent:12 https://doi.org/10.1016/j.clon.2018.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO 38.73 Geodäsie VZ 74.41 Luftaufnahmen Photogrammetrie VZ AR 30 2018 8 472-483 12 045F 610 |
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10.1016/j.clon.2018.04.004 doi GBV00000000000287A.pica (DE-627)ELV043642373 (ELSEVIER)S0936-6555(18)30213-9 DE-627 ger DE-627 rakwb eng 610 610 DE-101 610 DE-600 550 VZ 38.73 bkl 74.41 bkl Hoskins, P.J. verfasserin aut Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature 2018transfer abstract 12 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. therapy Elsevier BRCA testing Elsevier prevention Elsevier Enthalten in Saunders Meyer, Theresa ELSEVIER Geometric BIM verification of indoor construction sites by photogrammetric point clouds and evidence theory 2022 a journal of the Royal College of Radiologists [S.l.] (DE-627)ELV009071989 volume:30 year:2018 number:8 pages:472-483 extent:12 https://doi.org/10.1016/j.clon.2018.04.004 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO 38.73 Geodäsie VZ 74.41 Luftaufnahmen Photogrammetrie VZ AR 30 2018 8 472-483 12 045F 610 |
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Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature |
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Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. |
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Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. |
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Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format. |
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