Consumer Preferences to Shape Genetic Test Adoption
As genomic testing permeates more medical disciplines, including even well care, patient preferences for testing are expected to increasingly shape testing choices. Professional practice guidelines, physician practice habits, and patient desires will intersect and together drive testing volumes. As technical hurdles related to performing genetic testing, and even sequencing, have largely been overcome, translational research is shifting to examine how these results affect not just health outcomes, but the practice of routine medicine, including well care, and the psychosocial effect this data has on patients and families. DTET examined some recently published studies to gain insights into emerging data on patient preferences for genetic/sequencing testing. Parents Interested in Sequencing Newborns The majority of new parents support genetic testing of healthy newborns, according to a study published online Dec. 4, 2014 in Genetics in Medicine. While no testing was actually performed—this study simply posed a hypothetical scenario to parents—the researchers say that there is broad support, regardless of demographics. The researchers surveyed 514 parents, following a brief genetics orientation, regarding their interest in receiving genomic sequencing for their healthy newborn within 48 hours of birth (July 2012 to December 2013). Parents were presented with a choice to take part in a […]
As genomic testing permeates more medical disciplines, including even well care, patient preferences for testing are expected to increasingly shape testing choices. Professional practice guidelines, physician practice habits, and patient desires will intersect and together drive testing volumes.
As technical hurdles related to performing genetic testing, and even sequencing, have largely been overcome, translational research is shifting to examine how these results affect not just health outcomes, but the practice of routine medicine, including well care, and the psychosocial effect this data has on patients and families. DTET examined some recently published studies to gain insights into emerging data on patient preferences for genetic/sequencing testing.
Parents Interested in Sequencing Newborns The majority of new parents support genetic testing of healthy newborns, according to a study published online Dec. 4, 2014 in Genetics in Medicine. While no testing was actually performed—this study simply posed a hypothetical scenario to parents—the researchers say that there is broad support, regardless of demographics. The researchers surveyed 514 parents, following a brief genetics orientation, regarding their interest in receiving genomic sequencing for their healthy newborn within 48 hours of birth (July 2012 to December 2013). Parents were presented with a choice to take part in a research study that would test many or all of the genes in their baby and were told that they would receive the results. Parents reported being not at all (6.4 percent), a little (10.9 percent), somewhat (36.6 percent), very (28.0 percent), or extremely (18.1 per-cent) interested in testing. Married participants and those with health concerns about their infant were significantly less interested in newborn genomic testing. Otherwise, parental interest was not significantly associated with age, gender, race, ethnicity, level of education, being a first-time biological parent, or family history of genetic disease. “We were amazed at the number of parents enthusiastically interested,” says co-author Robert Green, M.D., from Boston Children’s Hospital (Massachusetts). “We recognize that hypothetical situations are different from actually taking blood and there have been clear examples where hypothetical scenarios have overstated interest. … But, with MedSeq and BabySeq we will actually be doing it as big projects to understand the impact. … Sequencing healthy individuals is new territory.” Over the 2-year study period, none of the parents surveyed about genomic newborn screening (NBS) refused routine state-mandated NBS. Approximately 98 percent of parents of the 4.3 million newborns born each year in the United States participate in NBS, which in most states is administered without formal consent, but with some provisions for opt-out, although most women report not being aware of NBS.
Women Desire Discussion, Testing of Breast Cancer Risk Another study found a “marked unmet need” for discussion about genetic testing between clinicians and women diagnosed with breast cancer. The study, published online April 6 in the Journal of Clinical Oncology, found that more than one-third of women strongly desired genetic testing, but one in five reported undergoing testing. While these testing rates may correlate with appropriate use of testing based on risk, the researchers uncovered a low rate of discussion and testing among minorities, suggesting some women desiring, and possibly needing testing, are not able to access these services. “This study suggests that discussions regarding the actual risk of a hereditary syndrome are critical, particularly in vulnerable populations,” writes lead author Reshma Jagsi, M.D., D.Phil., from University of Michigan, Ann Arbor. “Discussions are essential to help patients at higher risk to access testing while also helping patients at lower risk to appropriately avoid testing without leaving lingering worry.” Given that the discovery of genetic mutations has implications for immediate treatment decisions, future monitoring, and possible repercussions for close relatives, the researchers surveyed 1,536 patients being treated for nonmetastatic breast cancer from 2005 to 2007 about their preferences and experiences with hereditary risk evaluation. Patients were identified through population-based registries with oversampling of minority patients to ensure sufficient representation (17 percent black; 39 percent Latina). Nearly one-third (32 percent) reported a family history of breast or ovarian cancer in a first degree relative. The researchers found that among this diverse population of breast cancer patients 35 percent of patients reported a strong desire for genetic testing, 28 percent reported discussing testing with a health care professional, and 19 percent reported undergoing testing. Of the 493 patients who expressed a strong desire for testing, 43.4 percent failed to have a genetic testing discussion with a health care professional, despite their desire. Minority patients (blacks and Latinas) were significantly more likely than whites to have an unmet need for discussion, even when controlling for other factors. Among long-term survivors, those with an unmet need for discussion worried significantly more about recurrence (48.7 percent versus 24.9 percent in those without an unmet need). Among patients who did have testing, reasons for testing included perceived physician recommendation (65.2 percent) and patients’ desire for information relevant to family members (53.6 percent). Those who did not receive testing cited reasons including: physician recommendation (64.9 percent), personal choice (8.9 percent), and financial expense (7.0 percent). “The infrequency of relevant discussion in breast cancer decision making that we observed in our 2006 cohort is concerning,” write the authors. “These findings are even more relevant today given the exponential growth in news about genetic risk and rapidly increasing access to an expanded array of available genetic tests.” Takeaway: Emerging evidence demonstrates there is substantial interest among the general public for genetic testing for a range of conditions. In the future, patient desire will be a strong driver for genetic testing.
Parents Interested in Sequencing Newborns The majority of new parents support genetic testing of healthy newborns, according to a study published online Dec. 4, 2014 in Genetics in Medicine. While no testing was actually performed—this study simply posed a hypothetical scenario to parents—the researchers say that there is broad support, regardless of demographics. The researchers surveyed 514 parents, following a brief genetics orientation, regarding their interest in receiving genomic sequencing for their healthy newborn within 48 hours of birth (July 2012 to December 2013). Parents were presented with a choice to take part in a research study that would test many or all of the genes in their baby and were told that they would receive the results. Parents reported being not at all (6.4 percent), a little (10.9 percent), somewhat (36.6 percent), very (28.0 percent), or extremely (18.1 per-cent) interested in testing. Married participants and those with health concerns about their infant were significantly less interested in newborn genomic testing. Otherwise, parental interest was not significantly associated with age, gender, race, ethnicity, level of education, being a first-time biological parent, or family history of genetic disease. “We were amazed at the number of parents enthusiastically interested,” says co-author Robert Green, M.D., from Boston Children’s Hospital (Massachusetts). “We recognize that hypothetical situations are different from actually taking blood and there have been clear examples where hypothetical scenarios have overstated interest. … But, with MedSeq and BabySeq we will actually be doing it as big projects to understand the impact. … Sequencing healthy individuals is new territory.” Over the 2-year study period, none of the parents surveyed about genomic newborn screening (NBS) refused routine state-mandated NBS. Approximately 98 percent of parents of the 4.3 million newborns born each year in the United States participate in NBS, which in most states is administered without formal consent, but with some provisions for opt-out, although most women report not being aware of NBS.
Women Desire Discussion, Testing of Breast Cancer Risk Another study found a “marked unmet need” for discussion about genetic testing between clinicians and women diagnosed with breast cancer. The study, published online April 6 in the Journal of Clinical Oncology, found that more than one-third of women strongly desired genetic testing, but one in five reported undergoing testing. While these testing rates may correlate with appropriate use of testing based on risk, the researchers uncovered a low rate of discussion and testing among minorities, suggesting some women desiring, and possibly needing testing, are not able to access these services. “This study suggests that discussions regarding the actual risk of a hereditary syndrome are critical, particularly in vulnerable populations,” writes lead author Reshma Jagsi, M.D., D.Phil., from University of Michigan, Ann Arbor. “Discussions are essential to help patients at higher risk to access testing while also helping patients at lower risk to appropriately avoid testing without leaving lingering worry.” Given that the discovery of genetic mutations has implications for immediate treatment decisions, future monitoring, and possible repercussions for close relatives, the researchers surveyed 1,536 patients being treated for nonmetastatic breast cancer from 2005 to 2007 about their preferences and experiences with hereditary risk evaluation. Patients were identified through population-based registries with oversampling of minority patients to ensure sufficient representation (17 percent black; 39 percent Latina). Nearly one-third (32 percent) reported a family history of breast or ovarian cancer in a first degree relative. The researchers found that among this diverse population of breast cancer patients 35 percent of patients reported a strong desire for genetic testing, 28 percent reported discussing testing with a health care professional, and 19 percent reported undergoing testing. Of the 493 patients who expressed a strong desire for testing, 43.4 percent failed to have a genetic testing discussion with a health care professional, despite their desire. Minority patients (blacks and Latinas) were significantly more likely than whites to have an unmet need for discussion, even when controlling for other factors. Among long-term survivors, those with an unmet need for discussion worried significantly more about recurrence (48.7 percent versus 24.9 percent in those without an unmet need). Among patients who did have testing, reasons for testing included perceived physician recommendation (65.2 percent) and patients’ desire for information relevant to family members (53.6 percent). Those who did not receive testing cited reasons including: physician recommendation (64.9 percent), personal choice (8.9 percent), and financial expense (7.0 percent). “The infrequency of relevant discussion in breast cancer decision making that we observed in our 2006 cohort is concerning,” write the authors. “These findings are even more relevant today given the exponential growth in news about genetic risk and rapidly increasing access to an expanded array of available genetic tests.” Takeaway: Emerging evidence demonstrates there is substantial interest among the general public for genetic testing for a range of conditions. In the future, patient desire will be a strong driver for genetic testing.
Subscribe to Clinical Diagnostics Insider to view
Start a Free Trial for immediate access to this article