Most pregnant women want guidance on prenatal whole-genome sequencing

Almost all pregnant women would want information about serious treatable childhood-onset conditions from noninvasive prenatal whole-genome sequencing, according to results from a survey published in Obstetrics & Gynecology.

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Nearly half said they would want clear guidance from clinicians before undergoing the noninvasive procedure.

“Prenatal whole-genome sequencing offers significantly more fetal information than women can currently receive, and it is not surprising that, when faced with a tremendous range of information, many women want recommendations from their clinicians,” Haley K. Sullivan from the National Institutes of Health Clinical Center and National Human Genome Research Institute and colleagues wrote. “Our data suggest that most women prefer a directive interaction with their clinician when deciding what types of genetic information to receive from prenatal whole-genome sequencing.”

Research coordinators from the Inova Translational Medicine Institute offered 805 pregnant women a survey on their preferences for prenatal whole-genome sequencing between June and August 2017; of these, 553 women answered (69% response rate). The women responded to questions about what type of information they would like to receive if they were to undergo prenatal whole-genome sequencing and what role a clinician would preferably play in the decision-making process. The researchers divided the survey into sections based on actionability, severity, prevalence, and age of onset.

According to the survey results, 90% of respondents wanted information on serious treatable childhood-onset diseases from prenatal whole-genome sequencing results, while 40% said they did not want to receive results based on nonmedical traits such as eye color, height, or athletic ability.

With regard to clinician role, 45% of women said they wanted all options presented with clear recommendations from a clinician on which tests to order, 26% wanted all options presented but with a joint decision-making process, 13% wanted all options presented but independent decision making, and 11% wanted the clear recommendation from clinicians alone.

The respondents said the most common reason for wanting to undergo prenatal whole-genome sequencing was to prepare “financially, medically, or psychologically” for a child with special needs, the researchers said.

“This represents a departure from the current state of genetic counseling, where nondirectiveness is a central tenet, and is contrary to the 45% of ob.gyns. who said in a previous survey that they should not be at all directive when counseling patients on prenatal whole-genome sequencing,” the authors wrote. “Given this clear patient desire for guidance, there is a vital opportunity for the American College of Obstetricians and Gynecologists to provide leadership and recommendations as prenatal whole-genome sequencing is adopted into clinical practice.”

Limitations in the study include asking the respondents to make hypothetical decisions, using examples to describe genetic conditions that might have skewed decision making; asking women to pick only one reason for wanting the sequencing information from a list of predetermined options, when many reasons may be important to them; social desirability bias in the responses, if women are reluctant to pick a choice they perceive as less socially acceptable; and a potential systematic difference between women who were and were not enrolled as survey participants. The respondents also were from the Northern Virginia area, which may not be generalizable to a national population of patients, the researchers said.

This study was supported by the Intramural Research Program of the National Human Genome Research Institute and the Clinical Center Department of Bioethics, National Institutes of Health. The authors reported no relevant conflicts of interest.

SOURCE: Sullivan HK et al. Obstet Gynecol. 2019 Mar. doi: 10.1097/AOG.0000000000003121.

Almost all pregnant women would want information about serious treatable childhood-onset conditions from noninvasive prenatal whole-genome sequencing, according to results from a survey published in Obstetrics & Gynecology.

Stuart Jenner/Thinkstock

Nearly half said they would want clear guidance from clinicians before undergoing the noninvasive procedure.

“Prenatal whole-genome sequencing offers significantly more fetal information than women can currently receive, and it is not surprising that, when faced with a tremendous range of information, many women want recommendations from their clinicians,” Haley K. Sullivan from the National Institutes of Health Clinical Center and National Human Genome Research Institute and colleagues wrote. “Our data suggest that most women prefer a directive interaction with their clinician when deciding what types of genetic information to receive from prenatal whole-genome sequencing.”

Research coordinators from the Inova Translational Medicine Institute offered 805 pregnant women a survey on their preferences for prenatal whole-genome sequencing between June and August 2017; of these, 553 women answered (69% response rate). The women responded to questions about what type of information they would like to receive if they were to undergo prenatal whole-genome sequencing and what role a clinician would preferably play in the decision-making process. The researchers divided the survey into sections based on actionability, severity, prevalence, and age of onset.

According to the survey results, 90% of respondents wanted information on serious treatable childhood-onset diseases from prenatal whole-genome sequencing results, while 40% said they did not want to receive results based on nonmedical traits such as eye color, height, or athletic ability.

With regard to clinician role, 45% of women said they wanted all options presented with clear recommendations from a clinician on which tests to order, 26% wanted all options presented but with a joint decision-making process, 13% wanted all options presented but independent decision making, and 11% wanted the clear recommendation from clinicians alone.

The respondents said the most common reason for wanting to undergo prenatal whole-genome sequencing was to prepare “financially, medically, or psychologically” for a child with special needs, the researchers said.

“This represents a departure from the current state of genetic counseling, where nondirectiveness is a central tenet, and is contrary to the 45% of ob.gyns. who said in a previous survey that they should not be at all directive when counseling patients on prenatal whole-genome sequencing,” the authors wrote. “Given this clear patient desire for guidance, there is a vital opportunity for the American College of Obstetricians and Gynecologists to provide leadership and recommendations as prenatal whole-genome sequencing is adopted into clinical practice.”

Limitations in the study include asking the respondents to make hypothetical decisions, using examples to describe genetic conditions that might have skewed decision making; asking women to pick only one reason for wanting the sequencing information from a list of predetermined options, when many reasons may be important to them; social desirability bias in the responses, if women are reluctant to pick a choice they perceive as less socially acceptable; and a potential systematic difference between women who were and were not enrolled as survey participants. The respondents also were from the Northern Virginia area, which may not be generalizable to a national population of patients, the researchers said.

This study was supported by the Intramural Research Program of the National Human Genome Research Institute and the Clinical Center Department of Bioethics, National Institutes of Health. The authors reported no relevant conflicts of interest.

SOURCE: Sullivan HK et al. Obstet Gynecol. 2019 Mar. doi: 10.1097/AOG.0000000000003121.

Almost all pregnant women would want information about serious treatable childhood-onset conditions from noninvasive prenatal whole-genome sequencing, according to results from a survey published in Obstetrics & Gynecology.

Stuart Jenner/Thinkstock

Nearly half said they would want clear guidance from clinicians before undergoing the noninvasive procedure.

“Prenatal whole-genome sequencing offers significantly more fetal information than women can currently receive, and it is not surprising that, when faced with a tremendous range of information, many women want recommendations from their clinicians,” Haley K. Sullivan from the National Institutes of Health Clinical Center and National Human Genome Research Institute and colleagues wrote. “Our data suggest that most women prefer a directive interaction with their clinician when deciding what types of genetic information to receive from prenatal whole-genome sequencing.”

Research coordinators from the Inova Translational Medicine Institute offered 805 pregnant women a survey on their preferences for prenatal whole-genome sequencing between June and August 2017; of these, 553 women answered (69% response rate). The women responded to questions about what type of information they would like to receive if they were to undergo prenatal whole-genome sequencing and what role a clinician would preferably play in the decision-making process. The researchers divided the survey into sections based on actionability, severity, prevalence, and age of onset.

According to the survey results, 90% of respondents wanted information on serious treatable childhood-onset diseases from prenatal whole-genome sequencing results, while 40% said they did not want to receive results based on nonmedical traits such as eye color, height, or athletic ability.

With regard to clinician role, 45% of women said they wanted all options presented with clear recommendations from a clinician on which tests to order, 26% wanted all options presented but with a joint decision-making process, 13% wanted all options presented but independent decision making, and 11% wanted the clear recommendation from clinicians alone.

The respondents said the most common reason for wanting to undergo prenatal whole-genome sequencing was to prepare “financially, medically, or psychologically” for a child with special needs, the researchers said.

“This represents a departure from the current state of genetic counseling, where nondirectiveness is a central tenet, and is contrary to the 45% of ob.gyns. who said in a previous survey that they should not be at all directive when counseling patients on prenatal whole-genome sequencing,” the authors wrote. “Given this clear patient desire for guidance, there is a vital opportunity for the American College of Obstetricians and Gynecologists to provide leadership and recommendations as prenatal whole-genome sequencing is adopted into clinical practice.”

Limitations in the study include asking the respondents to make hypothetical decisions, using examples to describe genetic conditions that might have skewed decision making; asking women to pick only one reason for wanting the sequencing information from a list of predetermined options, when many reasons may be important to them; social desirability bias in the responses, if women are reluctant to pick a choice they perceive as less socially acceptable; and a potential systematic difference between women who were and were not enrolled as survey participants. The respondents also were from the Northern Virginia area, which may not be generalizable to a national population of patients, the researchers said.

This study was supported by the Intramural Research Program of the National Human Genome Research Institute and the Clinical Center Department of Bioethics, National Institutes of Health. The authors reported no relevant conflicts of interest.

SOURCE: Sullivan HK et al. Obstet Gynecol. 2019 Mar. doi: 10.1097/AOG.0000000000003121.