miércoles, 6 de marzo de 2019

Cancer Genetics Risk Assessment and Counseling (PDQ®) 1/4 —Health Professional Version - National Cancer Institute

Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version - National Cancer Institute

National Cancer Institute



Cancer Genetics Risk Assessment and Counseling (PDQ®)–Health Professional Version

Executive Summary

This executive summary reviews the topics covered in this PDQ summary on cancer genetics risk assessment and genetic counseling, with hyperlinks to detailed sections below that describe the evidence on each topic.
  • Identification of Individuals for Cancer Genetics Risk Assessment and Counseling
    Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history (on the maternal or paternal side) or clinical characteristics with features suggestive of hereditary cancer. These features vary by type of cancer and specific hereditary syndrome. Criteria have been published to help identify individuals who may benefit from genetic counseling. It is important that individuals who are candidates for genetic testing undergo genetic education and counseling before testing to facilitate informed decision-making and adaptation to the risk or condition. Genetic education and counseling allows individuals to consider the various medical uncertainties, diagnosis, or medical management options based on varied test results; and the risks, benefits, and limitations of genetic testing.
  • Components of Cancer Genetics Risk Assessment and Counseling
    Comprehensive cancer risk assessment and counseling is a consultative service that includes clinical assessment, genetic testing when appropriate, and risk management recommendations delivered in the context of one or more genetic counseling sessions. Pretest genetic counseling is an important part of the risk assessment process and helps patients understand their genetic testing options and potential outcomes. Posttest genetic counseling helps patients understand their test results, including the medical implications for themselves and their relatives.
    The recommended provision of cancer risk assessment services optimally involves care providers from multiple disciplines, including a genetic counselor; a genetics advanced practice nurse; a medical geneticist or a physician, such as an oncologist, surgeon, or internist; and potential referrals to other specialists, such as mental health professionals, endocrinologists, and reproductive specialists.
    Traditionally, genetic counseling services have been delivered using individualized, in-person appointments. However, other methodologies are being explored, including group sessions, telephone counseling, and telemedicine by videoconferencing.
  • Genetic Testing Considerations
    There are many factors that can influence an individual’s decision to undergo genetic testing and which type of test to use, including the presence of a known pathogenic variant in the family, patterns of cancer in the family, insurance coveragefamily planning considerations, and the psychological impact of a test result. Previously, most germline genetic testing was offered for a single gene at a time; however, recent technological advances have resulted in the widespread availability of multigene (panel) testing, which can simultaneously test for pathogenic variants in many genes at once, often at costs comparable to single-gene testing. Research examining the use of multigene testing is under way. Some genetic tests are also offered directly to the consumer (DTC). While these tests may promote patient autonomy and increased awareness of the importance of family history, DTC genetic testing may not include genetic counseling or interpretation of the results by a genetics professional.
  • Ethical, Legal, and Social Implications
    Having an understanding of the ethical, legal, and social implications regarding cancer genetic testing may influence the clinician’s response to the complex questions and issues that may arise during the process of risk assessment and counseling. The tenets of beneficencenonmaleficenceautonomy, and justice are part of a framework needed to balance the complex and potentially conflicting factors surrounding a clinician’s role in respecting privacy, confidentiality, and fair use of genetic information obtained from cancer genetic testing.
    Employment and insurance discrimination are common concerns for individuals considering genetic testing. The Genetic Information Nondiscrimination Act, a Federal law passed in 2008, protects the provision of health insurance and employment discrimination on the basis of genetics information; however, it does not apply to members of the military or to long-term care insurance.

Introduction

[Note: Many of the medical and scientific terms used in this summary are found in the NCI Dictionary of Genetics Terms. When a linked term is clicked, the definition will appear in a separate window.]
[Note: A concerted effort is being made within the genetics community to shift terminology used to describe genetic variation. The shift is to use the term “variant” rather than the term “mutation” to describe a difference that exists between the person or group being studied and the reference sequence. Variants can then be further classified as benign (harmless), likely benign, of uncertain significance, likely pathogenic, or pathogenic (disease causing). Throughout this summary, we will use the term pathogenic variant to describe a disease-causing mutation. Refer to the Cancer Genetics Overview summary for more information about variant classification.]
This summary describes current approaches to assessing and counseling people about their chance of having an inherited susceptibility to cancer. Genetic counseling is defined by the National Society of Genetic Counselors as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. Several reviews present overviews of the cancer risk assessment, counseling, and genetic testing process.[1,2]
Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history (maternal or paternal lineage) with features suggestive of hereditary cancer.[1] These features vary by type of cancer and specific hereditary syndrome. Criteria have been published to help identify individuals who may benefit from genetic counseling.[1,3] The PDQ cancer genetics information summaries on breastovarianendometrialcolorectalprostatekidney, and skin cancers and endocrine and neuroendocrine neoplasias describe the clinical features of hereditary syndromes associated with these conditions.
The following are features that suggest hereditary cancer:[4-8]
  • Unusually early age of cancer onset (e.g., premenopausal breast cancer).
  • Multiple primary cancers in a single individual (e.g., colorectal and endometrial cancer).
  • Bilateral cancer in paired organs or multifocal disease (e.g., bilateral breast cancer or multifocal renal cancer).
  • Clustering of the same type of cancer in close relatives (e.g., mother, daughter, and sisters with breast cancer).
  • Cancers occurring in multiple generations of a family (i.e., autosomal dominant inheritance).
  • Occurrence of rare tumors (e.g., retinoblastoma, adrenocortical carcinoma, granulosa cell tumor of the ovary, ocular melanoma, or duodenal cancer).
  • Occurrence of epithelial ovarian, fallopian tube, or primary peritoneal cancer.
  • Unusual presentation of cancer (e.g., male breast cancer).
  • Uncommon tumor histology (e.g., medullary thyroid carcinoma).
  • Rare cancers associated with birth defects (e.g., Wilms tumor and genitourinary abnormalities).
  • Geographic or ethnic populations known to be at high risk of hereditary cancers. Genetic testing candidates may be identified based solely on ethnicity when a strong founder effect is present in a given population (e.g., Ashkenazi heritage and BRCA1/BRCA2 pathogenic variants).
As part of the process of genetic education and counseling, genetic testing may be considered when the following factors are present:[9-11]
  • An individual's personal history (including ethnicity) and/or family history are suspicious for a genetic predisposition to cancer.
  • The genetic test has sufficient sensitivity and specificity to be interpreted.
  • The test will impact the individual's diagnosis, cancer management or cancer risk management, and/or help clarify risk in family members.
It is important that individuals who are candidates for genetic testing undergo genetic education and counseling before testing to facilitate informed decision making and adaptation to the risk or condition.[1,7-13] Genetic education and counseling allows individuals to consider the various medical uncertainties, diagnosis, or medical management based on varied test results, and the risks, benefits, and limitations of genetic testing.
References
  1. Riley BD, Culver JO, Skrzynia C, et al.: Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21 (2): 151-61, 2012. [PUBMED Abstract]
  2. Weitzel JN, Blazer KR, MacDonald DJ, et al.: Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine. CA Cancer J Clin 61 (5): 327-59, 2011 Sep-Oct. [PUBMED Abstract]
  3. Hampel H, Bennett RL, Buchanan A, et al.: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 17 (1): 70-87, 2015. [PUBMED Abstract]
  4. Tobias DH, Eng C, McCurdy LD, et al.: Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients. Gynecol Oncol 78 (2): 148-51, 2000. [PUBMED Abstract]
  5. Beller U, Halle D, Catane R, et al.: High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol 67 (2): 123-6, 1997. [PUBMED Abstract]
  6. Gabai-Kapara E, Lahad A, Kaufman B, et al.: Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A 111 (39): 14205-10, 2014. [PUBMED Abstract]
  7. Randall LM, Pothuri B, Swisher EM, et al.: Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper. Gynecol Oncol 146 (2): 217-224, 2017. [PUBMED Abstract]
  8. Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology: Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. Obstet Gynecol 130 (3): e110-e126, 2017. [PUBMED Abstract]
  9. Robson ME, Storm CD, Weitzel J, et al.: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 28 (5): 893-901, 2010. [PUBMED Abstract]
  10. Lancaster JM, Powell CB, Chen LM, et al.: Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 136 (1): 3-7, 2015. [PUBMED Abstract]
  11. Robson ME, Bradbury AR, Arun B, et al.: American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol 33 (31): 3660-7, 2015. [PUBMED Abstract]
  12. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2019. Plymouth Meeting, Pa: National Comprehensive Cancer Network, 2019. Available online with free registration. Last accessed January 29, 2019.
  13. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2018. Plymouth Meeting, PA: National Comprehensive Cancer Network, 2018. Available online with free registration. Last accessed October 22, 2018.

Identification of Candidates for Referral to Genetic Counseling

After an individual’s personal and family cancer histories have been collected, several factors could warrant referral to a genetics professional for evaluation of hereditary cancer susceptibility syndromes. The American College of Medical Genetics and Genomics and the National Society of Genetic Counselors have published a comprehensive set of personal and family history criteria to guide the identification of at-risk individuals and appropriate referral for cancer genetic risk consultation.[1] These practice guidelines take into account tumor types or other features and related criteria that would indicate a need for a genetics referral. The authors state that the guidelines are intended to maximize appropriate referral of at-risk individuals for cancer genetic consultation but are not meant to provide genetic testing or treatment recommendations.

Tools to Identify Candidates for Genetic Counseling and Genetic Testing

Identification of patients at moderate to high risk of hereditary cancer for genetic services is recommended by all major societies. Primary care physicians have a number of tools available to triage patients. In addition to the published categorical guidelines available through professional organizations,[1-4] there are also red flag cards, paper-based checklists, and patient-directed online referral tools. Table 1 provides a list of several publically available resources that can be used to identify patients for referral to genetic services. Although most tools are brief and simple enough for patients to complete on their own, either previsit, online, or in the waiting room, clinical review is warranted. Many include the commonly known features suggestive of hereditary cancers, but exclusions are noted in the table below.
Table 1. Available Tools to Identify Candidates for Referral to Genetics for Further Evaluation and Consideration of Genetic Testing
ENLARGE
NameMode and Length (Referral Threshold)Sensitivity/Specificityand ValidationTool Completed By (Tested Setting)Featuresa
aAll tools are available in English. Tools were tested in U.S. populations unless otherwise stated.
bReferral yield in test population.
Breast/Ovarian Cancer Tools for Health Professionals
Breast cancer referral screeningtool (B-RST)[5]• Paper/OnlineSensitivity 81%/Specificity 92%Health professional (mammography clinic)Does not include bilateral breast cancer or breast and ovarian cancer in the same person. 6% high riskb.
• 2-column table (2 positive answers)Validated in other populations [6,7]
Family health screening questionnaire[8]• PaperSensitivity 95%/Specificity 54%Health professional (primary care)Tested in Australia. Does not include bilateral breast cancer or breast and ovarian cancer in the same person.
• 9 questions (1 positive answer)
Family history assessment tool (FHAT)[9]• PaperNot providedHealth professional (primary care)Tested in Canada. Includes colon and prostate cancers. Includes third-degree relatives.
• 12 questions (>10 points for family score)
FHS-7 [10]• PaperSensitivity 87%/Specificity 54%Health professional (primary care)Tested in community-based population in Brazil. 6% high riskb.
• 7 questions (1 positive answer)
Pedigreeassessment tool (PAT) [11]• PaperSensitivity 100%/Specificity 93%Health professional (primary care)Tested in community hospital.
• 5 items (≥8 points)Validated in other populations [12]
Breast/Ovarian Cancer Tools for Patients
“Are you at risk for hereditary breast cancer?” educational brochure [13]• PaperNot providedPatient (breast and cervical cancer screening clinic)Tested in underinsured or uninsured low-income women.
• 11 questions (1 positive answer)
Family history questionnaire[14]• PaperNot providedPatient (mammography clinic)Tested in Australia. Does not include ovarian cancer, male breast cancer, or bilateral breast cancer. 13% high riskb.
• 6 questions (about 3 positive answers)
6-point scale[15]• PaperSensitivity 27%/Specificity 97%Patient (mammography clinic)Tested in low-income women in a safety net setting.
• 10 questions (≥6 points)
Colon Cancer Tools
FHS-7 [10]• PaperSensitivity 87%/Specificity 54%Health professional (primary care)Tested in community-based population in Brazil. 6% high riskb.
• 7 questions (1 positive answer)
Lynch syndrome risk assessmenttool [16]• PaperNot providedPatient (colonoscopy clinic)3% high riskb.
• 7 questions (1 positive answer)
There are also more extensive statistical risk assessment models designed for both highly motivated patients [17,18] and genetic specialists (e.g., CancerGeneIBIS).
References
  1. Hampel H, Bennett RL, Buchanan A, et al.: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 17 (1): 70-87, 2015. [PUBMED Abstract]
  2. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2019. Plymouth Meeting, Pa: National Comprehensive Cancer Network, 2019. Available online with free registration. Last accessed January 29, 2019.
  3. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2018. Plymouth Meeting, PA: National Comprehensive Cancer Network, 2018. Available online with free registration. Last accessed October 22, 2018.
  4. Lancaster JM, Powell CB, Chen LM, et al.: Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 136 (1): 3-7, 2015. [PUBMED Abstract]
  5. Bellcross CA, Lemke AA, Pape LS, et al.: Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med 11 (11): 783-9, 2009. [PUBMED Abstract]
  6. Bellcross C: Further development and evaluation of a breast/ovarian cancer genetics referral screening tool. Genet Med 12 (4): 240, 2010. [PUBMED Abstract]
  7. Brannon Traxler L, Martin ML, Kerber AS, et al.: Implementing a screening tool for identifying patients at risk for hereditary breast and ovarian cancer: a statewide initiative. Ann Surg Oncol 21 (10): 3342-7, 2014. [PUBMED Abstract]
  8. Emery JD, Reid G, Prevost AT, et al.: Development and validation of a family history screening questionnaire in Australian primary care. Ann Fam Med 12 (3): 241-9, 2014 May-Jun. [PUBMED Abstract]
  9. Gilpin CA, Carson N, Hunter AG: A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet 58 (4): 299-308, 2000. [PUBMED Abstract]
  10. Ashton-Prolla P, Giacomazzi J, Schmidt AV, et al.: Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer 9: 283, 2009. [PUBMED Abstract]
  11. Hoskins KF, Zwaagstra A, Ranz M: Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 107 (8): 1769-76, 2006. [PUBMED Abstract]
  12. Teller P, Hoskins KF, Zwaagstra A, et al.: Validation of the pedigree assessment tool (PAT) in families with BRCA1 and BRCA2 mutations. Ann Surg Oncol 17 (1): 240-6, 2010. [PUBMED Abstract]
  13. Cohn WF, Jones SM, Miesfeldt S: "Are you at risk for hereditary breast cancer?": development of a personal risk assessment tool for hereditary breast and ovarian cancer. J Genet Couns 17 (1): 64-78, 2008. [PUBMED Abstract]
  14. Fisher TJ, Kirk J, Hopper JL, et al.: A simple tool for identifying unaffected women at a moderately increased or potentially high risk of breast cancer based on their family history. Breast 12 (2): 120-7, 2003. [PUBMED Abstract]
  15. Stewart SL, Kaplan CP, Lee R, et al.: Validation of an Efficient Screening Tool to Identify Low-Income Women at High Risk for Hereditary Breast Cancer. Public Health Genomics 19 (6): 342-351, 2016. [PUBMED Abstract]
  16. Rabinowitz-Abrams D, Morgan D, Morse J, et al.: Building a tool to identify risk for Lynch syndrome among individuals presenting for screening colonoscopy. J Genet Couns 19 (4): 353-9, 2010. [PUBMED Abstract]
  17. Sweet K, Sturm AC, Rettig A, et al.: Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool. Genet Med 17 (6): 493-500, 2015. [PUBMED Abstract]
  18. Baumgart LA, Postula KJ, Knaus WA: Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. Fam Cancer 15 (2): 331-9, 2016. [PUBMED Abstract]

Cancer Risk Assessment and Counseling

Comprehensive cancer risk assessment is a consultative service that includes clinical assessment, genetic testing when appropriate, and risk management recommendations delivered in the context of one or more genetic counseling sessions. Pretest genetic counseling is an important part of the risk assessment process and helps patients understand their genetic testing options and potential outcomes. Posttest genetic counseling helps patients understand their test results, including the medical implications for themselves and their relatives.
The following professional organizations emphasize the importance of genetic counseling in the cancer risk assessment and genetic testing process:
  • American College of Medical Genetics and Genomics.[1]
  • American College of Obstetrics and Gynecology.[2]
  • American Society of Clinical Oncology.[3,4]
  • American Society of Human Genetics.[5,6]
  • International Society of Nurses in Genetics.[7,8]
  • National Society of Genetic Counselors.[9-11]
  • National Comprehensive Cancer Network.[12,13]
  • Oncology Nursing Society.[14]
  • Society of Gynecologic Oncologists.[15,16]
  • U.S. Preventive Services Task Force.[17]
A list of organizations that have published clinical practices guidelines related to genetic counseling, risk assessment, genetic testing, and/or management for hereditary breast and ovarian cancers is available in the PDQ summary on Genetics of Breast and Gynecologic Cancers.
Genetic counseling informs the consultand about potential cancer risks and the benefits and limitations of genetic testing and offers an opportunity to consider the potential medical, psychological, familial, and social implications of genetic information.[9,18] Descriptions of genetic counseling and the specialized practice of cancer risk assessment counseling are detailed below.

Genetic Counseling

Genetic counseling has been defined by the National Society of Genetic Counselors as the process of helping people understand and adapt to the medical, psychological, and familialimplications of genetic contributions to disease, including the following:[9]
  • How inherited diseases and conditions might affect them or their families.
  • How family and medical histories may impact the chance of disease occurrence or recurrence.
  • Which genetic tests may or may not be right for them, and what those tests may or may not tell.
  • How to make the most informed choices about health care conditions.
Traditionally, genetic counseling services have been delivered using individualized in-person appointments. However, other methodologies have been implemented, including group sessions, telephone counseling, and online genetic counseling using remote videoconferencing, which is often referred to as telegenetics. (Refer to the Modalities of genetic counseling section of this summary for more information.)
Central to the philosophy and practice of genetic counseling are the principles of voluntary utilization of services, informed decision making, attention to psychosocial and affective dimensions of coping with genetic risk, and protection of patient confidentiality and privacy. This is facilitated through a combination of rapport building and information gathering; establishing or verifying diagnoses; risk assessment and calculation of quantitative occurrence/recurrence risks; education and informed consent processes; psychosocial assessment, support, and counseling appropriate to a family’s culture and ethnicity; and other relevant background characteristics.[19,20] The psychosocial assessment is especially important in the genetic counseling process because individuals most vulnerable to adverse effects of genetic information may include those who have had difficulty dealing with stressful life events in the past.[21] Variables that may influence psychosocial adjustment to genetic information include individual and familial factors; cultural factors; and health system factors such as the type of test, disease status, and risk information.[21] Findings from a psychosocial assessment can be used to help guide the direction of the counseling session.[10] An important objective of genetic counseling is to provide an opportunity for shared decision making when the medical benefits of one course of action are not demonstrated to be superior to another. The relationship between the availability of effective medical treatment for carriers of pathogenic variants and the clinical validity of a given test affects the degree to which personal choice or physician recommendation is supported in counseling at-risk individuals.[22] Uptake of genetic counseling services among those referred varies based on the cancer syndrome and the clinical setting. Efforts to decrease barriers to service utilization are ongoing (e.g., the use of a patient navigator or an oncology clinic–based genetic counselor may increase utilization of these services).[23-25] Readers interested in the nature and history of genetic counseling are referred to a number of comprehensive reviews.[26-31]

Pretest Genetic Education and Counseling Outcomes

Cancer risk assessment counseling has emerged as a specialized practice that requires knowledge of genetics, oncology, and individual and family counseling skills that may be provided by health care providers with this interdisciplinary training.[32] Some centers providing cancer risk assessment services involve a multidisciplinary team, which may include a genetic counselor; a genetics advanced practice nurse; a medical geneticist or a physician, such as an oncologist, surgeon, or internist; and a mental health professional. The Cancer Genetics Services Directory provides a partial list of individuals involved in cancer risk assessment, genetic counseling, testing, and other related services and is available on the National Cancer Institute's website.

Modalities of genetic counseling

Traditionally, genetic counseling services have been delivered using individualized in-person appointments. However, other methodologies have been implemented, including group sessions, telephone counseling, and online genetic counseling using remote videoconferencing, which is often referred to as telegenetics.[33-41] Of these alternative approaches, only telephone counseling has been examined for noninferiority against in-person genetic counseling in a randomized controlled trial.[42-45]
Telephone genetic counseling
A systematic review identified 13 published studies that used a randomized controlled trial design to compare pretest and posttest outcomes for in-person genetic counseling with telephone counseling. Knowledge and psychosocial outcomes (e.g., distress) were found to be noninferior, equivalent, or not statistically significant between telephone counseling and in-person counseling. Two studies demonstrated lower testing intention or uptake among participants receiving telephone counseling. The majority of studies also found no difference in satisfaction; however, two studies demonstrated higher satisfaction among individuals who received telephone versus in-person genetic counseling.[45] (The studies were conducted prior to the adoption of multigene panel testing.)
Another group reported results of a study where all participants (N = 1,178) received in-person pretest counseling at one of five participating sites. Those participants willing to be randomized had their results disclosed by telephone (n = 401) or in person (n = 418). Notably, 30% of participants in this study had multigene panel testing. In this trial, telephone disclosure was noninferior to in-person results disclosure when comparing primary psychosocial outcomes (e.g., general and state anxiety). In primary analysis, knowledge did not meet the threshold of noninferiority without imputing missing data. Secondary outcomes related to cancer distress, depression, uncertainty, satisfaction with genetic testing, and behavioral intentions for risk management strategies were not statistically significant between groups.[46]
Video-assisted genetic counseling
Studies have also examined the use of online genetic counseling using remote videoconferencing (telegenetics) as an alternative to in-person genetic counseling and demonstrated increases in patient knowledge, high levels of satisfaction, and minimal negative psychosocial outcomes.[47-49]
References
  1. Hampel H, Bennett RL, Buchanan A, et al.: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 17 (1): 70-87, 2015. [PUBMED Abstract]
  2. Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology: Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. Obstet Gynecol 130 (3): e110-e126, 2017. [PUBMED Abstract]
  3. Robson ME, Storm CD, Weitzel J, et al.: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 28 (5): 893-901, 2010. [PUBMED Abstract]
  4. Robson ME, Bradbury AR, Arun B, et al.: American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol 33 (31): 3660-7, 2015. [PUBMED Abstract]
  5. Botkin JR, Belmont JW, Berg JS, et al.: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet 97 (1): 6-21, 2015. [PUBMED Abstract]
  6. Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet 55 (5): i-iv, 1994. [PUBMED Abstract]
  7. International Society of Nurses in Genetics: Provision of Quality Genetic Services and Care: Building a Multidisciplinary, Collaborative Approach among Genetic Nurses and Genetic Counselors. Pittsburgh, Pa: International Society of Nurses in Genetics, 2006. Available online. Last accessed December 07, 2018.
  8. International Society of Nurses in Genetics: Genetic Counseling for Vulnerable Populations: The Role of Nursing. Pittsburgh, Pa: International Society of Nurses in Genetics, 2010. Available online. Last accessed December 07, 2018.
  9. Resta R, Biesecker BB, Bennett RL, et al.: A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 15 (2): 77-83, 2006. [PUBMED Abstract]
  10. Riley BD, Culver JO, Skrzynia C, et al.: Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21 (2): 151-61, 2012. [PUBMED Abstract]
  11. Berliner JL, Fay AM, Cummings SA, et al.: NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22 (2): 155-63, 2013. [PUBMED Abstract]
  12. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2019. Plymouth Meeting, Pa: National Comprehensive Cancer Network, 2019. Available online with free registration. Last accessed January 29, 2019.
  13. National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2018. Plymouth Meeting, PA: National Comprehensive Cancer Network, 2018. Available online with free registration. Last accessed October 22, 2018.
  14. Oncology nursing: the application of cancer genetics and genomics throughout the oncology care continuum. Oncol Nurs Forum 40 (1): 10-1, 2013. [PUBMED Abstract]
  15. Lancaster JM, Powell CB, Chen LM, et al.: Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 136 (1): 3-7, 2015. [PUBMED Abstract]
  16. Randall LM, Pothuri B, Swisher EM, et al.: Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper. Gynecol Oncol 146 (2): 217-224, 2017. [PUBMED Abstract]
  17. Moyer VA; U.S. Preventive Services Task Force: Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 160 (4): 271-81, 2014. [PUBMED Abstract]
  18. Resta RG: Defining and redefining the scope and goals of genetic counseling. Am J Med Genet C Semin Med Genet 142C (4): 269-75, 2006. [PUBMED Abstract]
  19. Baty BJ, Kinney AY, Ellis SM: Developing culturally sensitive cancer genetics communication aids for African Americans. Am J Med Genet 118A (2): 146-55, 2003. [PUBMED Abstract]
  20. Jenkins JF, Lea DH: Nursing Care in the Genomic Era: A Case-Based Approach. Sudbury, Mass: Jones and Bartlett Publishers, 2005.
  21. Meiser B, Gaff C, Julian-Reynier C, et al.: International perspectives on genetic counseling and testing for breast cancer risk. Breast Dis 27: 109-25, 2006-2007. [PUBMED Abstract]
  22. Burke W, Pinsky LE, Press NA: Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genet 106 (3): 233-40, 2001 Fall. [PUBMED Abstract]
  23. Rahm AK, Sukhanova A, Ellis J, et al.: Increasing utilization of cancer genetic counseling services using a patient navigator model. J Genet Couns 16 (2): 171-7, 2007. [PUBMED Abstract]
  24. Kentwell M, Dow E, Antill Y, et al.: Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics. Gynecol Oncol 145 (1): 130-136, 2017. [PUBMED Abstract]
  25. Kishan AU, Gomez CL, Dawson NA, et al.: Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic. Ann Surg Oncol 23 (Suppl 5): 634-641, 2016. [PUBMED Abstract]
  26. Walker AP: The practice of genetic counseling. In: Baker DL, Schuette JL, Uhlmann WR, eds.: A Guide to Genetic Counseling. New York, NY: Wiley-Liss, 1998, pp 1-26.
  27. Bartels DM, LeRoy BS, Caplan AL, eds.: Prescribing Our Future: Ethical Challenges in Genetic Counseling. New York, NY: Aldine De Gruyter, 1993.
  28. Kenen RH: Genetic counseling: the development of a new interdisciplinary occupational field. Soc Sci Med 18 (7): 541-9, 1984. [PUBMED Abstract]
  29. Kenen RH, Smith AC: Genetic counseling for the next 25 years: models for the future. J Genet Couns 4 (2): 115-24, 1995.
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