- Email: [email protected]
Hereditary Breast and Ovarian Cancer
Evidence Matters
Hereditary Breast and Ovarian Cancer Research on How Women Respond to Genetic Testing
i
RAYMOND BINGHAM, RNC, MSN
In his liner notes to In Folsom Prison, Johnny Cash said of sitting in a jail cell, “You are positive of this, and only this: Th ere are nine vertical and sixteen horizontal bars on your door.” Similarly, science is positive of this: In your body’s cells, there are 23 pairs of chromosome strands. Research has brought a greater accessibility of genetic testing and a growing awareness of the genetic underpinnings of disease. At times, our
genes may seem like prison bars, limiting our lives and potential. However, genetics is rarely so rigid and unyielding. With greater understanding, nurses can help individuals facing a genetic health risk to make appropriate decisions and focus on wellness and living as fully as possible. One such area of concern to many women is hereditary breast and ovarian cancer (HBOC), a significant inherited cancer-susceptibility syndrome. HBOC may be indicated when there are multiple family members with breast and/
Abstract Researchers are exploring how women with an identified risk of hereditary breast and ovarian cancer (HBOC) or a diagnosis of breast or ovarian cancer choose to undergo testing, respond to the results, engage in prevention or screening and make decisions for the future. Nurses will need to develop knowledge of genetics, genetic testing and conditions such as HBOC to provide optimal care for their patients. DOI: 10.1111/j.1751-486X.2012.01750.x Keywords cancer screening | hereditary breast and ovarian cancer | genetic testing
http://nwh.awhonn.org
© 2012, AWHONN
319
Evidence
or ovarian cancer, or in the case of an individual diagnosed with breast cancer at an early age (American College of Obstetricians and Gynecologists, 2009).
Matters
Human Genome Project and Genetic Testing The Human Genome Project, completed in 2003, forever altered the landscape of health science and health care. By determining the entire human genome sequence, this multinational effort greatly advanced basic research in the fields of genetics (the study of single genes and their effects) and genomics (the study of the genome as a whole, including interactions with the environment), and enhanced our ability to understand the hereditary basis of health and disease (Jenkins, Grady, & Collins, 2005). After all, almost every illness or disorder that affects human health, such as diabetes, high cholesterol and cancer, has some connection to our genes (National Human Genome Research Institute [NHGRI], 2009a,b). The research investment in the Human Genome Project also resulted in technological breakthroughs that have increased the speed and accuracy, and reduced the cost, of replicating and sequencing deoxyribonucleic acid (DNA), the genetic material of the cell. This has fostered significant growth in the area of genetic testing, which involves the examination of a person’s genetic makeup for mutations (altera-
Most cases of HBOC involve mutations in the genes known as BRCA1 or BRCA2
tions in genetic material) that may indicate an increased risk for specific diseases or disorders. Genetic testing has only become widely available over the last 10 to 15 years (Bancroft, 2010).
Role of Nursing Raymond Bingham, RNC, MSN, is a freelance science writer and editor in Gaithersburg, MD. The author reports no conflicts of interest or relevant financial relationships. Address correspondence to: [email protected].
320
In their everyday clinical practice, nurses interact with a wide range of individuals, from healthy persons undergoing annual check-ups and routine health screenings to patients with advanced disease. The information available from genetic testing will be increasingly applicable to the clinical care that nurses provide. To further their practice, nurses must be literate in
Nursing for Women’s Health
genetic concepts, as they will become more involved in genetic counseling and education. Patient education has always been a primary nursing responsibility. Nurses have much practical experience with presenting complex information in a simple an understandable way, while remaining sensitive to its possible emotional and psychosocial impact. However, information about genetics, particularly in the area of genetic testing, can be confusing, unfamiliar or even scary to many people. After all, genetic test results may affect not only the current life of the individual, but also future treatment decisions. Test results can play a major role in decisions a woman or a couple might make related to reproduction, as harmful mutations carried by either parent may be passed on to offspring. In addition, the results can have a profound impact on the lives of other family members, who may carry the same mutation. New and ongoing research is examining how individuals learn about and understand genetic testing, as well as how they respond to test results. One of the most active areas of this type of research involves HBOC.
Genetics of HBOC In the United States, roughly 5 to 10 percent of breast or ovarian cancers have a genetic, or hereditary, component. A woman may become concerned about her risk for HBOC on the basis of a family history of these or related cancers, particularly if the cancer occurred in her birth mother or another female family member closely related by blood, such as a grandmother, aunt, or sister; if the diagnosis was made in the affected person before age 50; or if it occurred in a male family member. In the event of a positive family history, a woman may seek out genetic testing to determine if she carries a cancer susceptibility gene. Most cases of HBOC involve mutations in the genes known as BRCA1 or BRCA2. A woman testing positive for a deleterious mutation to either of these genes has a lifetime risk that ranges from 50 to 80 percent for developing breast cancer and from 11 to 65 percent for ovarian cancer (Loescher et al., 2009).
Genetic Testing and Cancer Screening While some women identified as at risk for
Volume 16
Issue 4
Women of childbearing age who are BRCA-positive face many difficult and psychologically wrenching decisions about ways to manage their cancer risk or, if already diagnosed, treat their cancer HBOC may opt for genetic testing, we know little about how the results may impact their subsequent cancer screening and surveillance choices.
HBOC Screening Commonly accepted tests to screen for breast cancer include breast self-exam, clinical breast exam performed by a health care provider and mammogram. Magnetic resonance imaging (MRI) of the breast, a newer procedure, has been found to be more sensitive in detecting certain types of breast cancers, but also to increase false-positive results. There is as yet no clear evidence that MRI screening can contribute to decreasing deaths from breast cancer, and this procedure remains under investigation (National Cancer Institute [NCI], 2012). Ovarian cancer is much more difficult to detect, and there are currently no standard screening measures
August | September 2012
that have proved consistently successful. The tests most widely used include bilateral pelvic exam to palpate the ovaries, transvaginal ultrasound and a blood test for CA125, a potential biomarker for ovarian cancer. However, a recent study published in JAMA found that annual screening involving transvaginal ultrasound and CA125 did not reduce mortality from ovarian cancer, while follow-up evaluations as a result of false-positive results carried a risk for complications (Buys et al., 2011). To explore the impact of BRCA test results on screening practices, one research study followed 107 women who were identified as at risk for HBOC and underwent BRCA testing. The women averaged 56 years of age, and most were white, well-educated, married or partnered and employed or retired. In addition, roughly 90 percent had already been diagnosed with breast and/
or ovarian cancer. The genetic testing results indicated that 84 percent of the women were negative for BRCA 1 or 2 mutations, while 8 percent were positive and 8 percent had an inconclusive result (some BRCA mutations have an unknown or uncertain significance in relation to breast or ovarian cancer). When asked about their cancer screening practices, 87 percent of the women reported having at least a yearly clinical breast exam and/or mammogram, which follows most current screening recommendations. In addition, 44 percent had received a breast MRI. However, while 97 percent reported a recent a pelvic exam, fewer than 50 percent reported a transvaginal ultrasound or CA125 test. As a result, more than 70 percent were considered to have received suboptimal screening for ovarian cancer. The most common reason cited for not having undergone a particular test was lack of health care provider recommendation. The results of this study also revealed no differences in screening behaviors between the BRCA-negative and BRCA-positive women. This is of concern because even women with negative BRCA results may be at risk for HBOC related to other, as yet unidentified, genetic mutations. The findings of this study indicate that health care providers may need to educate at-risk women about available and recommended cancer screening tests, particularly for ovarian cancer, and provide specific recommendations for tests where needed (Loescher et al., 2009).
Decision-Making with HBOC Women of childbearing age who are BRCA-positive not only have an elevated risk of HBOC, they also have a 50 percent chance of passing the mutation on to their children. These women face difficult decisions about ways to manage their cancer risk as well as their reproductive future. They may choose to undergo more frequent and extensive screening, engage in behavioral
Nursing for Women’s Health
321
Matters
Evidence
The issues of information disclosure and family communication of genetic test results are fraught with complexity and delicacy modifications to reduce cancer risk, or have prophylactic surgery to remove their breasts and/or ovaries. Researchers interviewed a group of 44 BRCA-positive women who were between the ages of 18 and 39. Most of the women were white, and 70 percent were married. Twenty-one of the women underwent genetic testing after being diagnosed with breast cancer. All of these women had either undergone a prophylactic mastectomy (PM), removing both the cancerous and the unaffected breast, or were considering the procedure. PM has been shown to reduce, but not completely eliminate, the risk of recurrent breast cancer. Still, having already developed cancer, these women generally opted for aggressive treatment. A second group of women in the study became aware of their HBOC risk only after a health care provider evaluated their family histories. These women generally took a pragmatic approach, viewing the positive test result as providing useful information to help them be
322
Nursing for Women’s Health
proactive in making screening or risk-reduction choices. A third group of women in the study became aware of their HBOC risk either because they lost their mothers to breast cancer or through a cancer diagnosis made in another close female relative. These women were often very aware of their genetic risk. Once they tested positive, most were considering PM or other aggressive measures because of their family experiences (Hamilton, Williams, Bowers, & Calzone, 2009). In another study, researchers surveyed 312 women patients at one cancer center, who had undergone genetic testing for a BRCA mutation, about their attitudes toward PM (Litton et al., 2009). Most of the women were white and married, and more than 80 percent had a family history of breast or ovarian cancer. Among all of the participants, 28 percent were BRCApositive. More than half of the BRCA-positive women, and three-quarters with BRCA-negative results, had a personal history of breast cancer; 27 of these women had already undergone PM. Among the BRCA-positive women, 70 percent believed that PM was the most effective way to reduce breast cancer risk, 65 percent felt it was the only way to reduce their worry, while 36 percent felt it was too drastic a step. Among the BRCA-negative women, the numbers were 40
Volume 16
Issue 4
percent, 34 percent and 41 percent, respectively. In the group of women who had not already had a mastectomy, 29 percent decided to undergo PM within the following year. These women were more likely to have reported belief that the procedure was the most effective risk reduction strategy and the best way to reduce worry and manage their risk. More than half the women surveyed didn’t believe that PM would be too drastic, scary or disfiguring a step to take. This finding is of particular interest, because many counselors and health care providers may be reluctant to bring up the procedure when discussing potential options for cancer risk reduction. Still, women of childbearing age who are BRCA-positive face many difficult and psychologically wrenching decisions about ways to manage their cancer risk or, if already diagnosed, treat their cancer. Decisions about lifestyle changes, cancer screening procedures, or PM and/or oophorectomy (removal of the ovaries) may affect their fertility or their ability to develop intimate relationships. Hamilton and Hurley interviewed 11 BRCA-positive single women between the ages of 18 and 34 to examine how they coped with their positive genetic findings (Hamilton & Hurley, 2010). Among the women, six had no current diagnosis of breast cancer and had not opted for a prophylactic procedure, and one was cancer negative and had undergone a PM. The other four participants had been diagnosed with breast cancer and were receiving treatment. The women struggled with the questions of if and when to inform a boyfriend or partner about their BRCA-positive status, a decision that was complicated if they had already developed cancer. Their genetic status put pressure on reproductive plans, as several of the women expressed a desire to have children as early as possible in case the need arose for them to have their ovaries removed. Those who had become infertile, either through
August | September 2012
surgery or chemotherapy, had to cope with the loss of any possibility of becoming pregnant. The participant who had undergone PM, followed by reconstructive surgery, stated that she had to choose when to explain to a new boyfriend about her choices, because her breasts looked and felt different than “normal” breasts. As the prevalence of genetic testing increases, nurses will interact with more individuals facing difficult life choices regarding genetic risks. Understanding the different life trajectories of women who have received a BRCApositive result at a relatively young age may help health care providers support and guide these women. When counseling young, BRCA-positive women, nurses will need to provide a nonthreatening environment for open discussion, listen carefully to the expressed concerns, give clear information to help clarify relative risks and offer nonjudgmental understanding.
Sharing Genetic Information within Families A positive result from a genetic test can help identify risk for the individual, but the impact of the result can ripple through the entire family. Other family members may have or be at risk for the same or a related condition. They may not be affected at all. Or, even if not affected, they may carry a gene for the condition and, thus, may pass it along to their children. In any case, the issues of information disclosure and family communication of genetic test results are fraught with complexity and delicacy. Studies have shown that persons testing positive for a gene mutation or condition weigh many factors in deciding whether or not to share this result with others. These factors may include the urgency of the condition, a sense of relationship and responsibility to other family members, anticipated reactions and their own emotional readiness to disclose and discuss such difficult information.
Get the Facts JAMA Patient Pages
jama.ama-assn.org/content/ 305/21/2244.full jama.ama-assn.org/content/ 305/23/2484.full National Cancer Institute
www.cancer.gov/cancertopics/ genetic-testing-for-breast-andovarian-cancer-risk www.cancer.gov/cancertopics/ factsheet/Risk/BRCA www.cancer.gov/cancertopics/ pdq/genetics/breast-andovarian/HealthProfessional www.cancer.gov/cancertopics/ pdq/screening/ovarian/patient National Library of Medicine
ghr.nlm.nih.gov/ condition=breastcancer National Human Genome Research Institute
www.genome.gov/10000507
Nurses can help these individuals by assessing family relationships and communication patterns, as well as by clearly explaining the risks of the condition, the risks faced by family members and the potential value of disclosure to both the individual and the family. If possible, the nurse may offer to assist in this communication, or counsel patients on different ways to inform family members, such as in discussions at family get-togethers, over the phone or
Nursing for Women’s Health
323
Matters
Evidence
through a letter or e-mail to an individual or the entire family (Gallo, Angst, & Knafl, 2009).
Conclusion While scientists have sequenced the human genome, genetic knowledge has not erected prison bars limiting and confining human potential. Rather, this knowledge signifies a new and exciting opportunity. Genetic research can help us find ways to identify and treat a variety of hereditary conditions. It offers the possibility of improved screening and prevention for many individuals at risk for otherwise life-limiting diseases. Advances in the field of genetics, particularly since the conclusion of the Human Genome Project, are rapidly reshaping health care. Nurses will be asked to assume an ever-widening range of responsibilities while working with
Nurses are well-positioned to help these women by providing clear information, answering questions, promoting discussion and offering support individuals and families identified with or at risk for hereditary conditions. In the role of patient educator, nurses will need ongoing research and education not only to stay current with the latest findings, but also to learn and understand the best ways of working with patients and their families to present genetic test results, implement preventive or prophylactic measures and reduce risks. Women with HBOC, whether or not they are BRCA-positive, will need ongoing counseling as they make decisions about screening practices or risk- reduction procedures. Nurses are well-positioned to help these women by providing clear information, answering questions, promoting discussion and offering support. Research in this area promises to help clinical nurses work more effectively with those identified with a genetic disease risk and be at the forefront in using genetic information to focus on maintaining health and reducing health risks. NWH
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References American College of Obstetricians and Gynecologists. (2009). ACOG Practice Bulletin 103. Hereditary breast and ovarian cancer syndrome. Obstetrics and Gynecology, 113, 957–966. Bancroft, E. K. (2010). Genetic testing for cancer predisposition and implications for nursing practice: narrative review. Journal of Advanced Nursing, 66, 710–737. Buys, S. S., Partridge, E., Black, A., Johnson, C. C., Lamerato, L., Isaacs, C., … Berg, C. D., for the PLCO Project Team. (2011). Effect of screening on ovarian cancer mortality: the Prostate, Lung, Colorectal and Ovarian (PLCO) cancer screening randomized controlled trial. Journal of the American Medical Association, 305, 2295–2303. Gallo, A. M., Angst, D. B., & Knafl, K. A. (2009). Disclosure of genetic information within families: how nurses can facilitate family communication. American Journal of Nursing, 109, 65–69. Hamilton, R., & Hurley, K. E. (2010). Conditions and consequences of a BRCA mutation in young, single women of childbearing age. Oncology Nursing Forum, 37, 627–634. Hamilton, R., Williams, J. K., Bowers, B. J., & Calzone, K. (2009). Life trajectories, genetic testing, and risk reduction decisions in 18–39 year old women at risk for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 18, 147–59. Jenkins, J., Grady, P. A., & Collins, F. S. (2005). Nurses and the genomic revolution. Journal of Nursing Scholarship, 37 (2), 98–101. Litton, J. K., Westin, S. N., Ready, K., Sun, C. C., Peterson, S. K., Meric-Bernstam, F., … Arun, B. K. (2009). Perception of screening and risk reduction surgeries in patients tested for a BRCA deleterious mutation. Cancer, 115, 1598–1604. Loescher, L. J., Lim, K. H., Leitner, O., Ray, J., D’Souza, J., & Armstrong, C. M. (2009). Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing. Oncology Nursing Forum, 36 (2):E57–E67. National Cancer Institute (NCI). (last modified March 2, 2012). National Cancer Institute: PDQ® Breast Cancer Screening. Retrieved from www. cancer.gov/cancertopics/pdq/screening/breast/ healthprofessional National Human Genome Research Institute (NHGRI). (2009a). A brief guide to genomics. Retrieved from www.genome.gov/18016863 National Human Genome Research Institute (NHGRI). (2009b). Understanding the Human Genome Project. Retrieved from www.nhgri.nih. gov/25520329
Volume 16
Issue 4
Hereditary Breast and Ovarian Cancer Research on How Women Respond to Genetic Testing
i
RAYMOND BINGHAM, RNC, MSN
In his liner notes to In Folsom Prison, Johnny Cash said of sitting in a jail cell, “You are positive of this, and only this: Th ere are nine vertical and sixteen horizontal bars on your door.” Similarly, science is positive of this: In your body’s cells, there are 23 pairs of chromosome strands. Research has brought a greater accessibility of genetic testing and a growing awareness of the genetic underpinnings of disease. At times, our
genes may seem like prison bars, limiting our lives and potential. However, genetics is rarely so rigid and unyielding. With greater understanding, nurses can help individuals facing a genetic health risk to make appropriate decisions and focus on wellness and living as fully as possible. One such area of concern to many women is hereditary breast and ovarian cancer (HBOC), a significant inherited cancer-susceptibility syndrome. HBOC may be indicated when there are multiple family members with breast and/
Abstract Researchers are exploring how women with an identified risk of hereditary breast and ovarian cancer (HBOC) or a diagnosis of breast or ovarian cancer choose to undergo testing, respond to the results, engage in prevention or screening and make decisions for the future. Nurses will need to develop knowledge of genetics, genetic testing and conditions such as HBOC to provide optimal care for their patients. DOI: 10.1111/j.1751-486X.2012.01750.x Keywords cancer screening | hereditary breast and ovarian cancer | genetic testing
http://nwh.awhonn.org
© 2012, AWHONN
319
Evidence
or ovarian cancer, or in the case of an individual diagnosed with breast cancer at an early age (American College of Obstetricians and Gynecologists, 2009).
Matters
Human Genome Project and Genetic Testing The Human Genome Project, completed in 2003, forever altered the landscape of health science and health care. By determining the entire human genome sequence, this multinational effort greatly advanced basic research in the fields of genetics (the study of single genes and their effects) and genomics (the study of the genome as a whole, including interactions with the environment), and enhanced our ability to understand the hereditary basis of health and disease (Jenkins, Grady, & Collins, 2005). After all, almost every illness or disorder that affects human health, such as diabetes, high cholesterol and cancer, has some connection to our genes (National Human Genome Research Institute [NHGRI], 2009a,b). The research investment in the Human Genome Project also resulted in technological breakthroughs that have increased the speed and accuracy, and reduced the cost, of replicating and sequencing deoxyribonucleic acid (DNA), the genetic material of the cell. This has fostered significant growth in the area of genetic testing, which involves the examination of a person’s genetic makeup for mutations (altera-
Most cases of HBOC involve mutations in the genes known as BRCA1 or BRCA2
tions in genetic material) that may indicate an increased risk for specific diseases or disorders. Genetic testing has only become widely available over the last 10 to 15 years (Bancroft, 2010).
Role of Nursing Raymond Bingham, RNC, MSN, is a freelance science writer and editor in Gaithersburg, MD. The author reports no conflicts of interest or relevant financial relationships. Address correspondence to: [email protected].
320
In their everyday clinical practice, nurses interact with a wide range of individuals, from healthy persons undergoing annual check-ups and routine health screenings to patients with advanced disease. The information available from genetic testing will be increasingly applicable to the clinical care that nurses provide. To further their practice, nurses must be literate in
Nursing for Women’s Health
genetic concepts, as they will become more involved in genetic counseling and education. Patient education has always been a primary nursing responsibility. Nurses have much practical experience with presenting complex information in a simple an understandable way, while remaining sensitive to its possible emotional and psychosocial impact. However, information about genetics, particularly in the area of genetic testing, can be confusing, unfamiliar or even scary to many people. After all, genetic test results may affect not only the current life of the individual, but also future treatment decisions. Test results can play a major role in decisions a woman or a couple might make related to reproduction, as harmful mutations carried by either parent may be passed on to offspring. In addition, the results can have a profound impact on the lives of other family members, who may carry the same mutation. New and ongoing research is examining how individuals learn about and understand genetic testing, as well as how they respond to test results. One of the most active areas of this type of research involves HBOC.
Genetics of HBOC In the United States, roughly 5 to 10 percent of breast or ovarian cancers have a genetic, or hereditary, component. A woman may become concerned about her risk for HBOC on the basis of a family history of these or related cancers, particularly if the cancer occurred in her birth mother or another female family member closely related by blood, such as a grandmother, aunt, or sister; if the diagnosis was made in the affected person before age 50; or if it occurred in a male family member. In the event of a positive family history, a woman may seek out genetic testing to determine if she carries a cancer susceptibility gene. Most cases of HBOC involve mutations in the genes known as BRCA1 or BRCA2. A woman testing positive for a deleterious mutation to either of these genes has a lifetime risk that ranges from 50 to 80 percent for developing breast cancer and from 11 to 65 percent for ovarian cancer (Loescher et al., 2009).
Genetic Testing and Cancer Screening While some women identified as at risk for
Volume 16
Issue 4
Women of childbearing age who are BRCA-positive face many difficult and psychologically wrenching decisions about ways to manage their cancer risk or, if already diagnosed, treat their cancer HBOC may opt for genetic testing, we know little about how the results may impact their subsequent cancer screening and surveillance choices.
HBOC Screening Commonly accepted tests to screen for breast cancer include breast self-exam, clinical breast exam performed by a health care provider and mammogram. Magnetic resonance imaging (MRI) of the breast, a newer procedure, has been found to be more sensitive in detecting certain types of breast cancers, but also to increase false-positive results. There is as yet no clear evidence that MRI screening can contribute to decreasing deaths from breast cancer, and this procedure remains under investigation (National Cancer Institute [NCI], 2012). Ovarian cancer is much more difficult to detect, and there are currently no standard screening measures
August | September 2012
that have proved consistently successful. The tests most widely used include bilateral pelvic exam to palpate the ovaries, transvaginal ultrasound and a blood test for CA125, a potential biomarker for ovarian cancer. However, a recent study published in JAMA found that annual screening involving transvaginal ultrasound and CA125 did not reduce mortality from ovarian cancer, while follow-up evaluations as a result of false-positive results carried a risk for complications (Buys et al., 2011). To explore the impact of BRCA test results on screening practices, one research study followed 107 women who were identified as at risk for HBOC and underwent BRCA testing. The women averaged 56 years of age, and most were white, well-educated, married or partnered and employed or retired. In addition, roughly 90 percent had already been diagnosed with breast and/
or ovarian cancer. The genetic testing results indicated that 84 percent of the women were negative for BRCA 1 or 2 mutations, while 8 percent were positive and 8 percent had an inconclusive result (some BRCA mutations have an unknown or uncertain significance in relation to breast or ovarian cancer). When asked about their cancer screening practices, 87 percent of the women reported having at least a yearly clinical breast exam and/or mammogram, which follows most current screening recommendations. In addition, 44 percent had received a breast MRI. However, while 97 percent reported a recent a pelvic exam, fewer than 50 percent reported a transvaginal ultrasound or CA125 test. As a result, more than 70 percent were considered to have received suboptimal screening for ovarian cancer. The most common reason cited for not having undergone a particular test was lack of health care provider recommendation. The results of this study also revealed no differences in screening behaviors between the BRCA-negative and BRCA-positive women. This is of concern because even women with negative BRCA results may be at risk for HBOC related to other, as yet unidentified, genetic mutations. The findings of this study indicate that health care providers may need to educate at-risk women about available and recommended cancer screening tests, particularly for ovarian cancer, and provide specific recommendations for tests where needed (Loescher et al., 2009).
Decision-Making with HBOC Women of childbearing age who are BRCA-positive not only have an elevated risk of HBOC, they also have a 50 percent chance of passing the mutation on to their children. These women face difficult decisions about ways to manage their cancer risk as well as their reproductive future. They may choose to undergo more frequent and extensive screening, engage in behavioral
Nursing for Women’s Health
321
Matters
Evidence
The issues of information disclosure and family communication of genetic test results are fraught with complexity and delicacy modifications to reduce cancer risk, or have prophylactic surgery to remove their breasts and/or ovaries. Researchers interviewed a group of 44 BRCA-positive women who were between the ages of 18 and 39. Most of the women were white, and 70 percent were married. Twenty-one of the women underwent genetic testing after being diagnosed with breast cancer. All of these women had either undergone a prophylactic mastectomy (PM), removing both the cancerous and the unaffected breast, or were considering the procedure. PM has been shown to reduce, but not completely eliminate, the risk of recurrent breast cancer. Still, having already developed cancer, these women generally opted for aggressive treatment. A second group of women in the study became aware of their HBOC risk only after a health care provider evaluated their family histories. These women generally took a pragmatic approach, viewing the positive test result as providing useful information to help them be
322
Nursing for Women’s Health
proactive in making screening or risk-reduction choices. A third group of women in the study became aware of their HBOC risk either because they lost their mothers to breast cancer or through a cancer diagnosis made in another close female relative. These women were often very aware of their genetic risk. Once they tested positive, most were considering PM or other aggressive measures because of their family experiences (Hamilton, Williams, Bowers, & Calzone, 2009). In another study, researchers surveyed 312 women patients at one cancer center, who had undergone genetic testing for a BRCA mutation, about their attitudes toward PM (Litton et al., 2009). Most of the women were white and married, and more than 80 percent had a family history of breast or ovarian cancer. Among all of the participants, 28 percent were BRCApositive. More than half of the BRCA-positive women, and three-quarters with BRCA-negative results, had a personal history of breast cancer; 27 of these women had already undergone PM. Among the BRCA-positive women, 70 percent believed that PM was the most effective way to reduce breast cancer risk, 65 percent felt it was the only way to reduce their worry, while 36 percent felt it was too drastic a step. Among the BRCA-negative women, the numbers were 40
Volume 16
Issue 4
percent, 34 percent and 41 percent, respectively. In the group of women who had not already had a mastectomy, 29 percent decided to undergo PM within the following year. These women were more likely to have reported belief that the procedure was the most effective risk reduction strategy and the best way to reduce worry and manage their risk. More than half the women surveyed didn’t believe that PM would be too drastic, scary or disfiguring a step to take. This finding is of particular interest, because many counselors and health care providers may be reluctant to bring up the procedure when discussing potential options for cancer risk reduction. Still, women of childbearing age who are BRCA-positive face many difficult and psychologically wrenching decisions about ways to manage their cancer risk or, if already diagnosed, treat their cancer. Decisions about lifestyle changes, cancer screening procedures, or PM and/or oophorectomy (removal of the ovaries) may affect their fertility or their ability to develop intimate relationships. Hamilton and Hurley interviewed 11 BRCA-positive single women between the ages of 18 and 34 to examine how they coped with their positive genetic findings (Hamilton & Hurley, 2010). Among the women, six had no current diagnosis of breast cancer and had not opted for a prophylactic procedure, and one was cancer negative and had undergone a PM. The other four participants had been diagnosed with breast cancer and were receiving treatment. The women struggled with the questions of if and when to inform a boyfriend or partner about their BRCA-positive status, a decision that was complicated if they had already developed cancer. Their genetic status put pressure on reproductive plans, as several of the women expressed a desire to have children as early as possible in case the need arose for them to have their ovaries removed. Those who had become infertile, either through
August | September 2012
surgery or chemotherapy, had to cope with the loss of any possibility of becoming pregnant. The participant who had undergone PM, followed by reconstructive surgery, stated that she had to choose when to explain to a new boyfriend about her choices, because her breasts looked and felt different than “normal” breasts. As the prevalence of genetic testing increases, nurses will interact with more individuals facing difficult life choices regarding genetic risks. Understanding the different life trajectories of women who have received a BRCApositive result at a relatively young age may help health care providers support and guide these women. When counseling young, BRCA-positive women, nurses will need to provide a nonthreatening environment for open discussion, listen carefully to the expressed concerns, give clear information to help clarify relative risks and offer nonjudgmental understanding.
Sharing Genetic Information within Families A positive result from a genetic test can help identify risk for the individual, but the impact of the result can ripple through the entire family. Other family members may have or be at risk for the same or a related condition. They may not be affected at all. Or, even if not affected, they may carry a gene for the condition and, thus, may pass it along to their children. In any case, the issues of information disclosure and family communication of genetic test results are fraught with complexity and delicacy. Studies have shown that persons testing positive for a gene mutation or condition weigh many factors in deciding whether or not to share this result with others. These factors may include the urgency of the condition, a sense of relationship and responsibility to other family members, anticipated reactions and their own emotional readiness to disclose and discuss such difficult information.
Get the Facts JAMA Patient Pages
jama.ama-assn.org/content/ 305/21/2244.full jama.ama-assn.org/content/ 305/23/2484.full National Cancer Institute
www.cancer.gov/cancertopics/ genetic-testing-for-breast-andovarian-cancer-risk www.cancer.gov/cancertopics/ factsheet/Risk/BRCA www.cancer.gov/cancertopics/ pdq/genetics/breast-andovarian/HealthProfessional www.cancer.gov/cancertopics/ pdq/screening/ovarian/patient National Library of Medicine
ghr.nlm.nih.gov/ condition=breastcancer National Human Genome Research Institute
www.genome.gov/10000507
Nurses can help these individuals by assessing family relationships and communication patterns, as well as by clearly explaining the risks of the condition, the risks faced by family members and the potential value of disclosure to both the individual and the family. If possible, the nurse may offer to assist in this communication, or counsel patients on different ways to inform family members, such as in discussions at family get-togethers, over the phone or
Nursing for Women’s Health
323
Matters
Evidence
through a letter or e-mail to an individual or the entire family (Gallo, Angst, & Knafl, 2009).
Conclusion While scientists have sequenced the human genome, genetic knowledge has not erected prison bars limiting and confining human potential. Rather, this knowledge signifies a new and exciting opportunity. Genetic research can help us find ways to identify and treat a variety of hereditary conditions. It offers the possibility of improved screening and prevention for many individuals at risk for otherwise life-limiting diseases. Advances in the field of genetics, particularly since the conclusion of the Human Genome Project, are rapidly reshaping health care. Nurses will be asked to assume an ever-widening range of responsibilities while working with
Nurses are well-positioned to help these women by providing clear information, answering questions, promoting discussion and offering support individuals and families identified with or at risk for hereditary conditions. In the role of patient educator, nurses will need ongoing research and education not only to stay current with the latest findings, but also to learn and understand the best ways of working with patients and their families to present genetic test results, implement preventive or prophylactic measures and reduce risks. Women with HBOC, whether or not they are BRCA-positive, will need ongoing counseling as they make decisions about screening practices or risk- reduction procedures. Nurses are well-positioned to help these women by providing clear information, answering questions, promoting discussion and offering support. Research in this area promises to help clinical nurses work more effectively with those identified with a genetic disease risk and be at the forefront in using genetic information to focus on maintaining health and reducing health risks. NWH
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References American College of Obstetricians and Gynecologists. (2009). ACOG Practice Bulletin 103. Hereditary breast and ovarian cancer syndrome. Obstetrics and Gynecology, 113, 957–966. Bancroft, E. K. (2010). Genetic testing for cancer predisposition and implications for nursing practice: narrative review. Journal of Advanced Nursing, 66, 710–737. Buys, S. S., Partridge, E., Black, A., Johnson, C. C., Lamerato, L., Isaacs, C., … Berg, C. D., for the PLCO Project Team. (2011). Effect of screening on ovarian cancer mortality: the Prostate, Lung, Colorectal and Ovarian (PLCO) cancer screening randomized controlled trial. Journal of the American Medical Association, 305, 2295–2303. Gallo, A. M., Angst, D. B., & Knafl, K. A. (2009). Disclosure of genetic information within families: how nurses can facilitate family communication. American Journal of Nursing, 109, 65–69. Hamilton, R., & Hurley, K. E. (2010). Conditions and consequences of a BRCA mutation in young, single women of childbearing age. Oncology Nursing Forum, 37, 627–634. Hamilton, R., Williams, J. K., Bowers, B. J., & Calzone, K. (2009). Life trajectories, genetic testing, and risk reduction decisions in 18–39 year old women at risk for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 18, 147–59. Jenkins, J., Grady, P. A., & Collins, F. S. (2005). Nurses and the genomic revolution. Journal of Nursing Scholarship, 37 (2), 98–101. Litton, J. K., Westin, S. N., Ready, K., Sun, C. C., Peterson, S. K., Meric-Bernstam, F., … Arun, B. K. (2009). Perception of screening and risk reduction surgeries in patients tested for a BRCA deleterious mutation. Cancer, 115, 1598–1604. Loescher, L. J., Lim, K. H., Leitner, O., Ray, J., D’Souza, J., & Armstrong, C. M. (2009). Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing. Oncology Nursing Forum, 36 (2):E57–E67. National Cancer Institute (NCI). (last modified March 2, 2012). National Cancer Institute: PDQ® Breast Cancer Screening. Retrieved from www. cancer.gov/cancertopics/pdq/screening/breast/ healthprofessional National Human Genome Research Institute (NHGRI). (2009a). A brief guide to genomics. Retrieved from www.genome.gov/18016863 National Human Genome Research Institute (NHGRI). (2009b). Understanding the Human Genome Project. Retrieved from www.nhgri.nih. gov/25520329
Volume 16
Issue 4