{"title":"是否需要强制遗传咨询?","authors":"Mike Fillon","doi":"10.3322/caac.21831","DOIUrl":null,"url":null,"abstract":"<p>With genetic testing becoming more readily available for cancer prevention and surveillance, a new study investigated whether skipping counseling—either before or after testing—is any worse than requiring counseling for patients with a family history of cancer or those known to be at genetic risk for cancer. The results of Making Genetic Testing Accessible (MAGENTA), a four-armed randomized clinical trial, appear in <i>JAMA Oncology</i> (doi:10.1001/jamaoncol.2023.3748).</p><p>What prompted researchers from the University of Washington to investigate this issue was their recognition that there was low awareness of the necessity of genetic counseling in the testing process. According to the lead study author, Elizabeth Swisher, MD, a professor in the Department of Obstetrics and Gynecology and coleader of the Breast and Ovarian Cancer Research Program at the Fred Hutchinson/University of Washington Cancer Consortium in Seattle, Washington, the investigation sought to establish if skipping the standard counseling increased posttest distress and whether that would affect completing the testing process.</p><p>According to Dr Swisher, the researchers believe that MAGENTA is the first large randomized clinical trial evaluating the effect of individualized preand posttest counseling for cancer risk assessment while providing electronic enrollment, remote testing, and counseling. “As a result, we hoped to identify more accessible options for patients to get cancer genetic risk assessments without negatively impacting their worries about cancer risk.”</p><p>Study participants in all of the cohorts were found through social media and advertisements in traditional media outlets. All were enrolled between April 27, 2017, and September 29, 2020. The data analysis was performed between December 13, 2020, and May 31, 2023.</p><p>Participants were limited to English-speaking female residents of the United States who were at least 30 years old and had a family or personal history of breast or ovarian cancer. Each had to have internet access and access to a licensed health care professional. Those who had previously undergone genetic counseling were not eligible. There was no financial incentive offered.</p><p>The participants were assigned to either a family history cohort or a familial pathogenic variant (PV) cohort. The family history cohort included participants with a personal or family history of breast or ovarian cancer. To qualify for the PV cohort, participants needed a minimum of one biological relative with a PV in <i>BRCA1, BRCA2, BRIP1, PALB2, RAD51C, RAD51D, BARD1, MSH2, MSH6, MLH1,</i> or <i>PMS2</i>. There were 3125 in the family history cohort and 714 in the familial PV cohort.</p><p>The participants then watched a video about genetic testing, signed consent forms, and completed baseline questionnaires. Genetic counseling was provided by phone appointments, and testing was performed with home-delivered saliva kits. There were follow-up questionnaires at 3 and 12 months.</p><p>The researchers measured each subject’s cancer risk distress by using the Impact of Event Scale 3 months after genetic testing within the family history cohort; scores ranged from 0 to 75, with high distress indicated by a score of 20 or higher.</p><p>The primary outcome, distress 3 months after genetic testing, was similar in all arms of the study. The rate of high distress did not differ between the various arms of the study at either 3 or 12 months. In the family history cohort, all three experimental arms were noninferior to the control arm for distress at 3 and 12 months.</p><p>Overall, researchers reported high distress levels in 18.4% of the participants at 3 months; this level of distress persisted in 13.8% of the participants at 12 months. The rate of high distress also did not differ between the various arms of the study at either 3 or 12 months.</p><p>As for changes in distress scores from 3 to 12 months (including only those participants who completed both surveys), there was a statistically significant decrease in the mean Impact of Event Scale score from 3 to 12 months. The reduction in distress was significantly larger among those who had a known PV versus those with a family history.</p><p>The completion rates by arm were 76.9% in Arm A, 78.6% in Arm B, 69.2% in Arm C (the control), and 66.4% in Arm D. They also found a 74.1% completion rate in the family history cohort versus 66.8% in the familial PV cohort.</p><p>When it comes to counseling as it relates to genetic testing, Dr Swisher says that patients need options. “Counseling has an incredible value but requiring it when patients aren’t asking for it does not seem necessary. If patients request counseling, however, I think it’s a service we should provide, and if they don’t want counseling, it’s not something we should require.”</p><p>“This is an important study because genetic testing for cancer susceptibility is vastly under-utilized,” says Allison W. Kurian, MD, MSc, a professor of medicine, epidemiology, and population health at the Stanford University School of Medicine in Stanford, California. “This study offered an innovative and successful approach to streamlining the genetic counseling process and should inspire additional work to fine-tune the delivery of cancer genetic testing, Strategies like the ones tested in MAGENTA are essential to help get testing to those who need it.”</p><p>Dr Swisher notes that one of the biggest surprises from the study was the number of patients who went as far as ordering a test kit but never sent it back. She noted that almost 25% of the people who ordered a test kit seemed to change their minds. “Even after we sent them reminders, and even many who said they were at the ‘pulling the trigger’ point, some seemed to have second thoughts. And we found this wasn’t alleviated by pre-test counseling. It was true across the board.”</p><p>In an editorial accompanying the study (doi:10.1001/jamaoncol.2023.3683), Huma Q. Rana, MD, MPH, and Judy E. Garber, MD, MPH, from the Division of Cancer Genetics and Prevention at the Dana-Farber Cancer Institute in Boston, Massachusetts, note that for at least some low-risk patients who tested negative, care models without personalized counseling were noninferior with regard to short-term distress. “This may provide options for testing for individuals who do not have access to genetic counselors.</p><p>“Also notable,” they continued, was that “test completion rates were highest in the 2 arms without any pre-test counseling. However, across arms, decreased test completion was associated with non-Hispanic Black race as well as higher baseline anxiety and higher baseline depression.”</p><p>They added, “Despite significant effort by the investigators, the study population was ultimately homogenous, young, overwhelmingly White, and educated.” They also pointed out that hereditary cancer genetic testing is underutilized in individuals without a cancer diagnosis. “Only 10% of those with history suggestive of hereditary breast and ovarian cancer complete genetic testing.”</p><p>Dr Swisher agrees, saying that a major disappointment was their inability to attract a more diverse population for the study even though they tried different venues, including popular social media channels. “We tried to attract more rural participants, more Blacks and Hispanics. There really need to be more community-driven approaches in future studies.”</p>","PeriodicalId":137,"journal":{"name":"CA: A Cancer Journal for Clinicians","volume":null,"pages":null},"PeriodicalIF":503.1000,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.3322/caac.21831","citationCount":"0","resultStr":"{\"title\":\"Is mandated genetic counseling needed?\",\"authors\":\"Mike Fillon\",\"doi\":\"10.3322/caac.21831\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>With genetic testing becoming more readily available for cancer prevention and surveillance, a new study investigated whether skipping counseling—either before or after testing—is any worse than requiring counseling for patients with a family history of cancer or those known to be at genetic risk for cancer. The results of Making Genetic Testing Accessible (MAGENTA), a four-armed randomized clinical trial, appear in <i>JAMA Oncology</i> (doi:10.1001/jamaoncol.2023.3748).</p><p>What prompted researchers from the University of Washington to investigate this issue was their recognition that there was low awareness of the necessity of genetic counseling in the testing process. According to the lead study author, Elizabeth Swisher, MD, a professor in the Department of Obstetrics and Gynecology and coleader of the Breast and Ovarian Cancer Research Program at the Fred Hutchinson/University of Washington Cancer Consortium in Seattle, Washington, the investigation sought to establish if skipping the standard counseling increased posttest distress and whether that would affect completing the testing process.</p><p>According to Dr Swisher, the researchers believe that MAGENTA is the first large randomized clinical trial evaluating the effect of individualized preand posttest counseling for cancer risk assessment while providing electronic enrollment, remote testing, and counseling. “As a result, we hoped to identify more accessible options for patients to get cancer genetic risk assessments without negatively impacting their worries about cancer risk.”</p><p>Study participants in all of the cohorts were found through social media and advertisements in traditional media outlets. All were enrolled between April 27, 2017, and September 29, 2020. The data analysis was performed between December 13, 2020, and May 31, 2023.</p><p>Participants were limited to English-speaking female residents of the United States who were at least 30 years old and had a family or personal history of breast or ovarian cancer. Each had to have internet access and access to a licensed health care professional. Those who had previously undergone genetic counseling were not eligible. There was no financial incentive offered.</p><p>The participants were assigned to either a family history cohort or a familial pathogenic variant (PV) cohort. The family history cohort included participants with a personal or family history of breast or ovarian cancer. To qualify for the PV cohort, participants needed a minimum of one biological relative with a PV in <i>BRCA1, BRCA2, BRIP1, PALB2, RAD51C, RAD51D, BARD1, MSH2, MSH6, MLH1,</i> or <i>PMS2</i>. There were 3125 in the family history cohort and 714 in the familial PV cohort.</p><p>The participants then watched a video about genetic testing, signed consent forms, and completed baseline questionnaires. Genetic counseling was provided by phone appointments, and testing was performed with home-delivered saliva kits. There were follow-up questionnaires at 3 and 12 months.</p><p>The researchers measured each subject’s cancer risk distress by using the Impact of Event Scale 3 months after genetic testing within the family history cohort; scores ranged from 0 to 75, with high distress indicated by a score of 20 or higher.</p><p>The primary outcome, distress 3 months after genetic testing, was similar in all arms of the study. The rate of high distress did not differ between the various arms of the study at either 3 or 12 months. In the family history cohort, all three experimental arms were noninferior to the control arm for distress at 3 and 12 months.</p><p>Overall, researchers reported high distress levels in 18.4% of the participants at 3 months; this level of distress persisted in 13.8% of the participants at 12 months. The rate of high distress also did not differ between the various arms of the study at either 3 or 12 months.</p><p>As for changes in distress scores from 3 to 12 months (including only those participants who completed both surveys), there was a statistically significant decrease in the mean Impact of Event Scale score from 3 to 12 months. The reduction in distress was significantly larger among those who had a known PV versus those with a family history.</p><p>The completion rates by arm were 76.9% in Arm A, 78.6% in Arm B, 69.2% in Arm C (the control), and 66.4% in Arm D. They also found a 74.1% completion rate in the family history cohort versus 66.8% in the familial PV cohort.</p><p>When it comes to counseling as it relates to genetic testing, Dr Swisher says that patients need options. “Counseling has an incredible value but requiring it when patients aren’t asking for it does not seem necessary. If patients request counseling, however, I think it’s a service we should provide, and if they don’t want counseling, it’s not something we should require.”</p><p>“This is an important study because genetic testing for cancer susceptibility is vastly under-utilized,” says Allison W. Kurian, MD, MSc, a professor of medicine, epidemiology, and population health at the Stanford University School of Medicine in Stanford, California. “This study offered an innovative and successful approach to streamlining the genetic counseling process and should inspire additional work to fine-tune the delivery of cancer genetic testing, Strategies like the ones tested in MAGENTA are essential to help get testing to those who need it.”</p><p>Dr Swisher notes that one of the biggest surprises from the study was the number of patients who went as far as ordering a test kit but never sent it back. She noted that almost 25% of the people who ordered a test kit seemed to change their minds. “Even after we sent them reminders, and even many who said they were at the ‘pulling the trigger’ point, some seemed to have second thoughts. And we found this wasn’t alleviated by pre-test counseling. It was true across the board.”</p><p>In an editorial accompanying the study (doi:10.1001/jamaoncol.2023.3683), Huma Q. Rana, MD, MPH, and Judy E. Garber, MD, MPH, from the Division of Cancer Genetics and Prevention at the Dana-Farber Cancer Institute in Boston, Massachusetts, note that for at least some low-risk patients who tested negative, care models without personalized counseling were noninferior with regard to short-term distress. “This may provide options for testing for individuals who do not have access to genetic counselors.</p><p>“Also notable,” they continued, was that “test completion rates were highest in the 2 arms without any pre-test counseling. 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With genetic testing becoming more readily available for cancer prevention and surveillance, a new study investigated whether skipping counseling—either before or after testing—is any worse than requiring counseling for patients with a family history of cancer or those known to be at genetic risk for cancer. The results of Making Genetic Testing Accessible (MAGENTA), a four-armed randomized clinical trial, appear in JAMA Oncology (doi:10.1001/jamaoncol.2023.3748).
What prompted researchers from the University of Washington to investigate this issue was their recognition that there was low awareness of the necessity of genetic counseling in the testing process. According to the lead study author, Elizabeth Swisher, MD, a professor in the Department of Obstetrics and Gynecology and coleader of the Breast and Ovarian Cancer Research Program at the Fred Hutchinson/University of Washington Cancer Consortium in Seattle, Washington, the investigation sought to establish if skipping the standard counseling increased posttest distress and whether that would affect completing the testing process.
According to Dr Swisher, the researchers believe that MAGENTA is the first large randomized clinical trial evaluating the effect of individualized preand posttest counseling for cancer risk assessment while providing electronic enrollment, remote testing, and counseling. “As a result, we hoped to identify more accessible options for patients to get cancer genetic risk assessments without negatively impacting their worries about cancer risk.”
Study participants in all of the cohorts were found through social media and advertisements in traditional media outlets. All were enrolled between April 27, 2017, and September 29, 2020. The data analysis was performed between December 13, 2020, and May 31, 2023.
Participants were limited to English-speaking female residents of the United States who were at least 30 years old and had a family or personal history of breast or ovarian cancer. Each had to have internet access and access to a licensed health care professional. Those who had previously undergone genetic counseling were not eligible. There was no financial incentive offered.
The participants were assigned to either a family history cohort or a familial pathogenic variant (PV) cohort. The family history cohort included participants with a personal or family history of breast or ovarian cancer. To qualify for the PV cohort, participants needed a minimum of one biological relative with a PV in BRCA1, BRCA2, BRIP1, PALB2, RAD51C, RAD51D, BARD1, MSH2, MSH6, MLH1, or PMS2. There were 3125 in the family history cohort and 714 in the familial PV cohort.
The participants then watched a video about genetic testing, signed consent forms, and completed baseline questionnaires. Genetic counseling was provided by phone appointments, and testing was performed with home-delivered saliva kits. There were follow-up questionnaires at 3 and 12 months.
The researchers measured each subject’s cancer risk distress by using the Impact of Event Scale 3 months after genetic testing within the family history cohort; scores ranged from 0 to 75, with high distress indicated by a score of 20 or higher.
The primary outcome, distress 3 months after genetic testing, was similar in all arms of the study. The rate of high distress did not differ between the various arms of the study at either 3 or 12 months. In the family history cohort, all three experimental arms were noninferior to the control arm for distress at 3 and 12 months.
Overall, researchers reported high distress levels in 18.4% of the participants at 3 months; this level of distress persisted in 13.8% of the participants at 12 months. The rate of high distress also did not differ between the various arms of the study at either 3 or 12 months.
As for changes in distress scores from 3 to 12 months (including only those participants who completed both surveys), there was a statistically significant decrease in the mean Impact of Event Scale score from 3 to 12 months. The reduction in distress was significantly larger among those who had a known PV versus those with a family history.
The completion rates by arm were 76.9% in Arm A, 78.6% in Arm B, 69.2% in Arm C (the control), and 66.4% in Arm D. They also found a 74.1% completion rate in the family history cohort versus 66.8% in the familial PV cohort.
When it comes to counseling as it relates to genetic testing, Dr Swisher says that patients need options. “Counseling has an incredible value but requiring it when patients aren’t asking for it does not seem necessary. If patients request counseling, however, I think it’s a service we should provide, and if they don’t want counseling, it’s not something we should require.”
“This is an important study because genetic testing for cancer susceptibility is vastly under-utilized,” says Allison W. Kurian, MD, MSc, a professor of medicine, epidemiology, and population health at the Stanford University School of Medicine in Stanford, California. “This study offered an innovative and successful approach to streamlining the genetic counseling process and should inspire additional work to fine-tune the delivery of cancer genetic testing, Strategies like the ones tested in MAGENTA are essential to help get testing to those who need it.”
Dr Swisher notes that one of the biggest surprises from the study was the number of patients who went as far as ordering a test kit but never sent it back. She noted that almost 25% of the people who ordered a test kit seemed to change their minds. “Even after we sent them reminders, and even many who said they were at the ‘pulling the trigger’ point, some seemed to have second thoughts. And we found this wasn’t alleviated by pre-test counseling. It was true across the board.”
In an editorial accompanying the study (doi:10.1001/jamaoncol.2023.3683), Huma Q. Rana, MD, MPH, and Judy E. Garber, MD, MPH, from the Division of Cancer Genetics and Prevention at the Dana-Farber Cancer Institute in Boston, Massachusetts, note that for at least some low-risk patients who tested negative, care models without personalized counseling were noninferior with regard to short-term distress. “This may provide options for testing for individuals who do not have access to genetic counselors.
“Also notable,” they continued, was that “test completion rates were highest in the 2 arms without any pre-test counseling. However, across arms, decreased test completion was associated with non-Hispanic Black race as well as higher baseline anxiety and higher baseline depression.”
They added, “Despite significant effort by the investigators, the study population was ultimately homogenous, young, overwhelmingly White, and educated.” They also pointed out that hereditary cancer genetic testing is underutilized in individuals without a cancer diagnosis. “Only 10% of those with history suggestive of hereditary breast and ovarian cancer complete genetic testing.”
Dr Swisher agrees, saying that a major disappointment was their inability to attract a more diverse population for the study even though they tried different venues, including popular social media channels. “We tried to attract more rural participants, more Blacks and Hispanics. There really need to be more community-driven approaches in future studies.”
期刊介绍:
CA: A Cancer Journal for Clinicians" has been published by the American Cancer Society since 1950, making it one of the oldest peer-reviewed journals in oncology. It maintains the highest impact factor among all ISI-ranked journals. The journal effectively reaches a broad and diverse audience of health professionals, offering a unique platform to disseminate information on cancer prevention, early detection, various treatment modalities, palliative care, advocacy matters, quality-of-life topics, and more. As the premier journal of the American Cancer Society, it publishes mission-driven content that significantly influences patient care.