Current Commentary
The Case for Universal Prenatal Genetic Counseling Howard Minkoff,
MD,
and Richard Berkowitz,
MD
Recent scientific advances in human genetics and prenatal diagnostic technologies challenge the counseling infrastructure of most obstetric services. In just the past several years, the American College of Obstetricians and Gynecologists has published guidelines on fragile X, spinal muscular atrophy, and cystic fibrosis screening, and new technologies including microarray analysis, cell-free fetal DNA, and carrier gene panels have become available. Obstetrics is at a crossroads, which requires consideration of new ways of providing genetic counseling. Currently a two-tiered process is used. Specific tests such as first- or secondtrimester screening for aneuploidy are offered to virtually all women by a clinician who provides counseling and who may offer additional tests to patients in particular ethnic groups and those with unique obstetric or family histories. Frequently only this latter group and those who “screen positive” on the universally offered tests are sent to a genetic counselor. This approach worked well when screening focused on a relatively small number of diagnoses, but that is no longer the case. We argue that obstetricians, who were able to maintain mastery over the content of counseling when aneuploidies and karyotype analysis were the essential diagnoses and diagnostic tools available, are rarely able to offer the same level of expertise regarding the chromosomal, genomic, and genetic diseases now diagnosable and the newest available diagnostic methodologies. Therefore, all women, not just those surpassing some poorly defined level of risk, deserve genetic counseling. Approaches for achieving this goal are discussed. (Obstet Gynecol 2014;123:1335–8) DOI: 10.1097/AOG.0000000000000267
From the Departments of Obstetrics and Gynecology, Maimonides Medical Center, SUNY Downstate, Brooklyn, and Columbia University Medical Center, College of Physicians and Surgeons, New York, New York. Corresponding author: Howard Minkoff, MD, 967 48th Street, Brooklyn, NY 11219; e-mail: [email protected]. Financial Disclosure The authors did not report any potential conflicts of interest. © 2014 by The American College of Obstetricians and Gynecologists. Published by Lippincott Williams & Wilkins. ISSN: 0029-7844/14
VOL. 123, NO. 6, JUNE 2014
T
he pace of scientific advance in human genetics over the past 150 years—from the publication of Mendel’s work in 1866 to the completion of the human genome project in 2003—has been remarkable. Prenatal diagnostic technologies have advanced at a similarly whirlwind pace that now challenge the counseling infrastructure of most obstetric services, raising questions about the adequacy of current approaches to prenatal genetic counseling. In 2010 Ben and Chapman1 noted, “it also has to be acknowledged that contemporary prenatal screening and diagnosis is inefficient and problematic.” These questions have been raised before. Ten years ago, Mennuti2 questioned whether there were not already “too many choices.” Since then, genetic testing options have proliferated further, leading several authors3–5 to warn about potential ethical challenges that will be raised by noninvasive prenatal testing. The American College of Obstetricians and Gynecologists, during that same half decade, has published new guidelines on screening for fragile X, spinal muscular atrophy, and cystic fibrosis, and new genetic technologies including microarray analysis, cell-free fetal DNA, and expanded carrier gene panels have become widely available. The field of prenatal diagnosis was not always so complex. Prenatal counseling became a standard part of obstetric care in the 1960s with the advent of techniques that assessed the number, and crude banding patterns, of fetal chromosomes.6 Once those technologies and amniocentesis became available in the 1970s, genetic counseling entered the obstetric mainstream. The most common anomaly sought was aneuploidy, and the trigger for counseling was maternal age. Given the relatively small percentage of women requiring counseling (approximately 5% at the time), and the limited number of diagnosable entities, a relatively thorough approach to educating patients was possible and became the usual practice. By 2006 some authors7 started to call for moving beyond age-based testing, and the next year, the
OBSTETRICS & GYNECOLOGY
1335
American College of Obstetricians and Gynecologists recommended that all prenatal patients be offered screening for aneuploidy.8 Testing protocols continued to expand and subsequently evolved to the point that almost all women have now become candidates for some sort of prenatal screening or diagnostic protocol—whether that is screening using serum markers, anatomic surveys, carrier screens for disorders such as Tay Sachs or cystic fibrosis, expanded carrier screening panels, cell-free fetal DNA analysis, or diagnostic tests using chorionic villus sampling or amniocentesis. Obstetrics is now at a crossroads, which requires consideration of new ways of providing genetic counseling. Currently a two-tiered process is used. Certain screening tests such as maternal electrophoresis for hemoglobinopathies and first- and second-trimester serologic screening combined with ultrasound examinations are offered to essentially all women. A clinician, who may tailor additional screening tests to match individual patient risks, does the counseling. The additional tests may be reserved for patients in particular ethnic groups (eg, Ashkenazi Jews are offered testing for a panel of “Jewish genetic disorders”) or with unique obstetric histories (previous children with an anomaly) or family histories (eg, consanguineous marriage). These women, and those who “screen positive” on the universally offered tests, are then sent for second-level counseling with an individual with particular expertise in genetics. This approach worked well when screening focused on a relatively small number of diagnoses concentrated in circumscribed populations. It still works well for other aspects of the medical history that obstetricians routinely elicit. Obstetricians, for example, do not ask pulmonologists to take a pulmonary history from every patient. However, if the pulmonary history required a clinician to decide whether a patient needed a computed axial tomography scan or magnetic resonance imaging, an obstetrician would not be as well situated as a pulmonologist to make the choice. Decisions about increasingly complex genetic tests are now being offered to practically all pregnant patients and are arguably the basis for what will be among the most important decisions they will make in their reproductive lives. Decisions about advanced diagnostics in pulmonary or cardiac disease are rarely needed in pregnancy, so using a screening approach (ie, symptoms or history trigger a consultation) is still appropriate while its time as the standard for genetics may be passing. Indeed, genetic counseling has become more logistically, ethically, and financially challenging as the array of potentially diagnosable disorders has
1336
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virtually exploded. Furthermore, the use of riskbased screening protocols has been shown to perform poorly in obstetric settings for nongenetic diseases such as hepatitis B,9 gestational diabetes,10 and human immunodeficiency virus.11 That realization has resulted in universal screening becoming the de facto default approach for those disorders. The increasing complexity of genetics may augur a similar path for prenatal genetic counseling. That complexity is compounded by the evolution of prenatal testing from an era of gross karyotypic analysis to that which includes tiny chromosomal deletions and duplications and point mutations. The slow accretion of diagnosable entities that marked the mid-to-late 20th century has now become a flood. By the end of 2012, 3,000 genetic tests were available.12 Techniques are currently available to assess a patient’s genetic risk profile using “panels” that trawl for dozens or even hundreds of potentially deleterious genes. Like with individual gene tests, these panels can either be broad enough to provide a basic universal screen (eg, The Universal Genetic Test, Inherigen, Inheritest) or can be customized to reflect a woman’s ethnicity or obstetric history (eg, Ashkenazi Jewish Panel). The widening array of genetic testing options will almost certainly result in a substantial percentage of women making uninformed choices as a result of inadequate counseling by midwives or obstetricians.13 It is unlikely that the same clinician who addresses issues varying from maternal nutrition to immunization will have the requisite expertise to discuss which of the maze of prenatal panels now available are most appropriate for a specific patient. It is also likely that further technical advances will exacerbate rather than ameliorate these problems. The current availability of new testing methods and the looming development of ever more sophisticated technologies argue for a consideration of alternatives to contemporary approaches to counseling. One such alternative would be routine, universal genetic counseling, that is, an initial single-tier approach. In this scheme, counselors would meet with every prenatal patient early in pregnancy to ascertain whether there are unique risks in the family. They could then provide general education that highlights both the knowns and unknowns that may follow in the wake of genetic testing as well as explain the critical distinction between screening and diagnostic tests. Genetic counselors are uniquely qualified to perform these tasks. To become a certified genetic counselor, an individual must obtain a Master’s degree in genetic counseling from an American College of Genetic Counseling-accredited program and then pass a certifying examination.
OBSTETRICS & GYNECOLOGY
Undoubtedly there will be substantive barriers to collapsing the current two-tiered system, not least of which will be costs and logistics. Hiring and training the requisite number of counselors and finding a way to allow adequate time for all women to have sessions with them are not trivial considerations. Not every institution will have the necessary resources to provide each parturient with a genetic counseling session, although remote counseling by phone or telemedicine is becoming an available option in some places. However, there are ways to make this approach to counseling possible. The process could begin with an instructive video or group session, describing the basics of genetic testing; for example, the difference between screening and diagnostic testing, the meaning of false-positive and false-negative results, and the distinction between traits and diseases. Each couple could then complete a questionnaire regarding their personal and family histories, attitude toward testing, preference regarding the reporting of values of uncertain significance, and willingness to pay for some tests that may not be covered by insurance. A genetic counselor would then use the information obtained on the questionnaire to determine which screening or testing modality would be most appropriate. When a specific plan has been chosen, the counselor would provide a prepared list of items that will not be detected with that approach along with false-positive and false-negative rates for those that are. For women who wish to pursue genetic testing and are found to be screen positive, the counselor would subsequently discuss diagnostic testing and select an appropriate modality (chorionic villus sampling compared with amniocentesis) and analytic approach (karyotype with or without microarray). The information provided in this approach— from the instructive video to the choice of algorithms for management—should be promulgated by national expert panels. Given the fact that the majority of hospitals that provide maternity services in the United States perform less than three deliveries per day, it would be unrealistic to expect each institution to have adequate expertise to generate their own guidelines. Although we have proffered one particular approach to achieving universal counseling, there certainly may be others that would be equally or more efficacious. The key point is to recognize the need to provide all pregnant women with adequate information to enable informed choices about genetic screening and testing. A consensus panel convened by a body such as the National Institute of Child Health and Human Development might be best able to define the minimal content of what should be included in a counseling session in addition to out-
VOL. 123, NO. 6, JUNE 2014
lining a strategy for achieving that objective. The panel could also recommend the creation of a new multidisciplinary group that would be specifically charged with creating, among other things, accessible patient education materials. This group would need to update this information regularly to keep up with the pace of change. Finally, all this can only be accomplished if both governmental and private insurance funders acknowledge the importance of universal prenatal genetic counseling through the provision of adequate compensation. Ultimately what is driving this discussion is the realization that a counseling model that was born in an era when a relatively small number of women needed information about a finite number of heritable diseases will not suffice at a time when virtually all pregnant women need information about an enormous number of genetic disorders. Women have always been entitled to informed consent, the constituent components of which are voluntariness and relevant information. Obstetricians were able to maintain mastery over the content of counseling (the “information” component of consent) when aneuploidies and amniocentesis or chorionic villus sampling were the essential diagnoses and diagnostic tools to be discussed. Today they are rarely able to offer the same level of expertise regarding the chromosomal, genomic, and genetic diseases that are diagnosable and about the diagnostic tools that are available. It is no longer appropriate to limit access to genetic counselors to only those women who surpass a poorly defined level of risk. REFERENCES 1. Benn PA, Chapman AR. Ethical challenges in providing noninvasive prenatal diagnosis. Curr Opin Obstet Gynecol 2010; 22:128–34. 2. Menutti MT, Driscoll DA. Screening for Down’s syndrome—too many choices? N Engl J Med 2003;349:1471–3. 3. Benn PA, Chapman AR. Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA 2009;301:2154–6. 4. Norton ME, Rose NC, Benn P. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet Gynecol 2013;121:847–50. 5. Morain S, Greene MF, Mello MM. A new era in noninvasive prenatal testing. N Engl J Med 2013;369:499–501. 6. Steele MW, Breg WR Jr. Chromosome analysis of human amniotic-fluid cells. Lancet 1966;1:383–5. 7. Berkowitz RL, Roberts J, Minkoff H. Challenging the strategy of maternal age-based prenatal genetic counseling. JAMA 2006; 295:1446–8. 8. Screening for fetal chromosomal abnormalities. ACOG Practice Bulletin No. 77. American College of Obstetrics and Gynecology. Obstet Gynecol 2007;109:217–27. 9. Jonas MM, Schiff ER, O’Sullivan MJ, de Medina M, Reddy KR, Jeffers LJ, et al. Failure of Centers for Disease Con-
Minkoff and Berkowitz
Routine Genetic Counseling
1337
trol criteria to identify hepatitis B infection in a large municipal obstetrical population. Ann Intern Med 1987;107:335–7.
gestational diabetes mellitus: detection rates, gestation at diagnosis and outcome. Diabet Med 2000;17:26–32.
10. Landesman S, Minkoff H, Holman S, McCalla S, Sijin O. Serosurvey of human immunodeficiency virus infection in parturients. Implications for human immunodeficiency virus testing programs of pregnant women. JAMA 1987;258: 2701–3.
12. GeneTests Web. Available at: www.ncbi.nlm.nih.gov/sites/GeneTests. Retrieved January 16, 2013 (3,000 genetic tests available by the end of 2012).
11. Griffin ME, Coffey M, Johnson H, Scanlon P, Foley M, Stronge J, et al. Universal vs. risk factor-based screening for
13. Green JM, Hewison J, Bekker HL, Bryant LD, Cuckle HS. Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess 2004;8:iii, ix–x, 1–109.
Serve As a Reviewer for Obstetrics & Gynecology The Editors of Obstetrics & Gynecology are looking for new peer reviewers.* Sign up to become a peer reviewer by going to ong.editorialmanager.com and downloading the “Reviewer Contact Information Update Form” (located under“Files & Resources”). Please fill the form out electronically and submit it by e-mail to the editorial office ([email protected]). *In recognition of their time, effort, and expertise expended, reviewers of manuscripts for Obstetrics & Gynecology are eligible to receive continuing medical education credits. ACCME Accreditation The American College of Obstetricians and Gynecologists is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. AMA PRA Category 1 Credit(s)™ The American College of Obstetricians and Gynecologists designates this manuscript review activity for a maximum of 3 AMA PRA Category 1 C redits.™ Physicians should claim only the credit commensurate with the extent of their participation in the activity. College Cognate Credit(s) The American College of Obstetricians and Gynecologists designates this manuscript review activity for a maximum of 3 Category 1 College Cognate Credits. The College has a reciprocity agreement with the AMA that allows AMA PRA Category 1 Credits™ to be equivalent to College Cognate Credits. College Fellows will be awarded credit for a maximum of five reviews yearly. Those who are not College Fellows will receive e-mail documentation approximately1 month after completion of the review, which can be submitted to an accrediting body for credits. rev 7/2013
1338
Minkoff and Berkowitz
Routine Genetic Counseling
OBSTETRICS & GYNECOLOGY
The Case for Universal Prenatal Genetic Counseling Howard Minkoff,
MD,
and Richard Berkowitz,
MD
Recent scientific advances in human genetics and prenatal diagnostic technologies challenge the counseling infrastructure of most obstetric services. In just the past several years, the American College of Obstetricians and Gynecologists has published guidelines on fragile X, spinal muscular atrophy, and cystic fibrosis screening, and new technologies including microarray analysis, cell-free fetal DNA, and carrier gene panels have become available. Obstetrics is at a crossroads, which requires consideration of new ways of providing genetic counseling. Currently a two-tiered process is used. Specific tests such as first- or secondtrimester screening for aneuploidy are offered to virtually all women by a clinician who provides counseling and who may offer additional tests to patients in particular ethnic groups and those with unique obstetric or family histories. Frequently only this latter group and those who “screen positive” on the universally offered tests are sent to a genetic counselor. This approach worked well when screening focused on a relatively small number of diagnoses, but that is no longer the case. We argue that obstetricians, who were able to maintain mastery over the content of counseling when aneuploidies and karyotype analysis were the essential diagnoses and diagnostic tools available, are rarely able to offer the same level of expertise regarding the chromosomal, genomic, and genetic diseases now diagnosable and the newest available diagnostic methodologies. Therefore, all women, not just those surpassing some poorly defined level of risk, deserve genetic counseling. Approaches for achieving this goal are discussed. (Obstet Gynecol 2014;123:1335–8) DOI: 10.1097/AOG.0000000000000267
From the Departments of Obstetrics and Gynecology, Maimonides Medical Center, SUNY Downstate, Brooklyn, and Columbia University Medical Center, College of Physicians and Surgeons, New York, New York. Corresponding author: Howard Minkoff, MD, 967 48th Street, Brooklyn, NY 11219; e-mail: [email protected]. Financial Disclosure The authors did not report any potential conflicts of interest. © 2014 by The American College of Obstetricians and Gynecologists. Published by Lippincott Williams & Wilkins. ISSN: 0029-7844/14
VOL. 123, NO. 6, JUNE 2014
T
he pace of scientific advance in human genetics over the past 150 years—from the publication of Mendel’s work in 1866 to the completion of the human genome project in 2003—has been remarkable. Prenatal diagnostic technologies have advanced at a similarly whirlwind pace that now challenge the counseling infrastructure of most obstetric services, raising questions about the adequacy of current approaches to prenatal genetic counseling. In 2010 Ben and Chapman1 noted, “it also has to be acknowledged that contemporary prenatal screening and diagnosis is inefficient and problematic.” These questions have been raised before. Ten years ago, Mennuti2 questioned whether there were not already “too many choices.” Since then, genetic testing options have proliferated further, leading several authors3–5 to warn about potential ethical challenges that will be raised by noninvasive prenatal testing. The American College of Obstetricians and Gynecologists, during that same half decade, has published new guidelines on screening for fragile X, spinal muscular atrophy, and cystic fibrosis, and new genetic technologies including microarray analysis, cell-free fetal DNA, and expanded carrier gene panels have become widely available. The field of prenatal diagnosis was not always so complex. Prenatal counseling became a standard part of obstetric care in the 1960s with the advent of techniques that assessed the number, and crude banding patterns, of fetal chromosomes.6 Once those technologies and amniocentesis became available in the 1970s, genetic counseling entered the obstetric mainstream. The most common anomaly sought was aneuploidy, and the trigger for counseling was maternal age. Given the relatively small percentage of women requiring counseling (approximately 5% at the time), and the limited number of diagnosable entities, a relatively thorough approach to educating patients was possible and became the usual practice. By 2006 some authors7 started to call for moving beyond age-based testing, and the next year, the
OBSTETRICS & GYNECOLOGY
1335
American College of Obstetricians and Gynecologists recommended that all prenatal patients be offered screening for aneuploidy.8 Testing protocols continued to expand and subsequently evolved to the point that almost all women have now become candidates for some sort of prenatal screening or diagnostic protocol—whether that is screening using serum markers, anatomic surveys, carrier screens for disorders such as Tay Sachs or cystic fibrosis, expanded carrier screening panels, cell-free fetal DNA analysis, or diagnostic tests using chorionic villus sampling or amniocentesis. Obstetrics is now at a crossroads, which requires consideration of new ways of providing genetic counseling. Currently a two-tiered process is used. Certain screening tests such as maternal electrophoresis for hemoglobinopathies and first- and second-trimester serologic screening combined with ultrasound examinations are offered to essentially all women. A clinician, who may tailor additional screening tests to match individual patient risks, does the counseling. The additional tests may be reserved for patients in particular ethnic groups (eg, Ashkenazi Jews are offered testing for a panel of “Jewish genetic disorders”) or with unique obstetric histories (previous children with an anomaly) or family histories (eg, consanguineous marriage). These women, and those who “screen positive” on the universally offered tests, are then sent for second-level counseling with an individual with particular expertise in genetics. This approach worked well when screening focused on a relatively small number of diagnoses concentrated in circumscribed populations. It still works well for other aspects of the medical history that obstetricians routinely elicit. Obstetricians, for example, do not ask pulmonologists to take a pulmonary history from every patient. However, if the pulmonary history required a clinician to decide whether a patient needed a computed axial tomography scan or magnetic resonance imaging, an obstetrician would not be as well situated as a pulmonologist to make the choice. Decisions about increasingly complex genetic tests are now being offered to practically all pregnant patients and are arguably the basis for what will be among the most important decisions they will make in their reproductive lives. Decisions about advanced diagnostics in pulmonary or cardiac disease are rarely needed in pregnancy, so using a screening approach (ie, symptoms or history trigger a consultation) is still appropriate while its time as the standard for genetics may be passing. Indeed, genetic counseling has become more logistically, ethically, and financially challenging as the array of potentially diagnosable disorders has
1336
Minkoff and Berkowitz
Routine Genetic Counseling
virtually exploded. Furthermore, the use of riskbased screening protocols has been shown to perform poorly in obstetric settings for nongenetic diseases such as hepatitis B,9 gestational diabetes,10 and human immunodeficiency virus.11 That realization has resulted in universal screening becoming the de facto default approach for those disorders. The increasing complexity of genetics may augur a similar path for prenatal genetic counseling. That complexity is compounded by the evolution of prenatal testing from an era of gross karyotypic analysis to that which includes tiny chromosomal deletions and duplications and point mutations. The slow accretion of diagnosable entities that marked the mid-to-late 20th century has now become a flood. By the end of 2012, 3,000 genetic tests were available.12 Techniques are currently available to assess a patient’s genetic risk profile using “panels” that trawl for dozens or even hundreds of potentially deleterious genes. Like with individual gene tests, these panels can either be broad enough to provide a basic universal screen (eg, The Universal Genetic Test, Inherigen, Inheritest) or can be customized to reflect a woman’s ethnicity or obstetric history (eg, Ashkenazi Jewish Panel). The widening array of genetic testing options will almost certainly result in a substantial percentage of women making uninformed choices as a result of inadequate counseling by midwives or obstetricians.13 It is unlikely that the same clinician who addresses issues varying from maternal nutrition to immunization will have the requisite expertise to discuss which of the maze of prenatal panels now available are most appropriate for a specific patient. It is also likely that further technical advances will exacerbate rather than ameliorate these problems. The current availability of new testing methods and the looming development of ever more sophisticated technologies argue for a consideration of alternatives to contemporary approaches to counseling. One such alternative would be routine, universal genetic counseling, that is, an initial single-tier approach. In this scheme, counselors would meet with every prenatal patient early in pregnancy to ascertain whether there are unique risks in the family. They could then provide general education that highlights both the knowns and unknowns that may follow in the wake of genetic testing as well as explain the critical distinction between screening and diagnostic tests. Genetic counselors are uniquely qualified to perform these tasks. To become a certified genetic counselor, an individual must obtain a Master’s degree in genetic counseling from an American College of Genetic Counseling-accredited program and then pass a certifying examination.
OBSTETRICS & GYNECOLOGY
Undoubtedly there will be substantive barriers to collapsing the current two-tiered system, not least of which will be costs and logistics. Hiring and training the requisite number of counselors and finding a way to allow adequate time for all women to have sessions with them are not trivial considerations. Not every institution will have the necessary resources to provide each parturient with a genetic counseling session, although remote counseling by phone or telemedicine is becoming an available option in some places. However, there are ways to make this approach to counseling possible. The process could begin with an instructive video or group session, describing the basics of genetic testing; for example, the difference between screening and diagnostic testing, the meaning of false-positive and false-negative results, and the distinction between traits and diseases. Each couple could then complete a questionnaire regarding their personal and family histories, attitude toward testing, preference regarding the reporting of values of uncertain significance, and willingness to pay for some tests that may not be covered by insurance. A genetic counselor would then use the information obtained on the questionnaire to determine which screening or testing modality would be most appropriate. When a specific plan has been chosen, the counselor would provide a prepared list of items that will not be detected with that approach along with false-positive and false-negative rates for those that are. For women who wish to pursue genetic testing and are found to be screen positive, the counselor would subsequently discuss diagnostic testing and select an appropriate modality (chorionic villus sampling compared with amniocentesis) and analytic approach (karyotype with or without microarray). The information provided in this approach— from the instructive video to the choice of algorithms for management—should be promulgated by national expert panels. Given the fact that the majority of hospitals that provide maternity services in the United States perform less than three deliveries per day, it would be unrealistic to expect each institution to have adequate expertise to generate their own guidelines. Although we have proffered one particular approach to achieving universal counseling, there certainly may be others that would be equally or more efficacious. The key point is to recognize the need to provide all pregnant women with adequate information to enable informed choices about genetic screening and testing. A consensus panel convened by a body such as the National Institute of Child Health and Human Development might be best able to define the minimal content of what should be included in a counseling session in addition to out-
VOL. 123, NO. 6, JUNE 2014
lining a strategy for achieving that objective. The panel could also recommend the creation of a new multidisciplinary group that would be specifically charged with creating, among other things, accessible patient education materials. This group would need to update this information regularly to keep up with the pace of change. Finally, all this can only be accomplished if both governmental and private insurance funders acknowledge the importance of universal prenatal genetic counseling through the provision of adequate compensation. Ultimately what is driving this discussion is the realization that a counseling model that was born in an era when a relatively small number of women needed information about a finite number of heritable diseases will not suffice at a time when virtually all pregnant women need information about an enormous number of genetic disorders. Women have always been entitled to informed consent, the constituent components of which are voluntariness and relevant information. Obstetricians were able to maintain mastery over the content of counseling (the “information” component of consent) when aneuploidies and amniocentesis or chorionic villus sampling were the essential diagnoses and diagnostic tools to be discussed. Today they are rarely able to offer the same level of expertise regarding the chromosomal, genomic, and genetic diseases that are diagnosable and about the diagnostic tools that are available. It is no longer appropriate to limit access to genetic counselors to only those women who surpass a poorly defined level of risk. REFERENCES 1. Benn PA, Chapman AR. Ethical challenges in providing noninvasive prenatal diagnosis. Curr Opin Obstet Gynecol 2010; 22:128–34. 2. Menutti MT, Driscoll DA. Screening for Down’s syndrome—too many choices? N Engl J Med 2003;349:1471–3. 3. Benn PA, Chapman AR. Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA 2009;301:2154–6. 4. Norton ME, Rose NC, Benn P. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet Gynecol 2013;121:847–50. 5. Morain S, Greene MF, Mello MM. A new era in noninvasive prenatal testing. N Engl J Med 2013;369:499–501. 6. Steele MW, Breg WR Jr. Chromosome analysis of human amniotic-fluid cells. Lancet 1966;1:383–5. 7. Berkowitz RL, Roberts J, Minkoff H. Challenging the strategy of maternal age-based prenatal genetic counseling. JAMA 2006; 295:1446–8. 8. Screening for fetal chromosomal abnormalities. ACOG Practice Bulletin No. 77. American College of Obstetrics and Gynecology. Obstet Gynecol 2007;109:217–27. 9. Jonas MM, Schiff ER, O’Sullivan MJ, de Medina M, Reddy KR, Jeffers LJ, et al. Failure of Centers for Disease Con-
Minkoff and Berkowitz
Routine Genetic Counseling
1337
trol criteria to identify hepatitis B infection in a large municipal obstetrical population. Ann Intern Med 1987;107:335–7.
gestational diabetes mellitus: detection rates, gestation at diagnosis and outcome. Diabet Med 2000;17:26–32.
10. Landesman S, Minkoff H, Holman S, McCalla S, Sijin O. Serosurvey of human immunodeficiency virus infection in parturients. Implications for human immunodeficiency virus testing programs of pregnant women. JAMA 1987;258: 2701–3.
12. GeneTests Web. Available at: www.ncbi.nlm.nih.gov/sites/GeneTests. Retrieved January 16, 2013 (3,000 genetic tests available by the end of 2012).
11. Griffin ME, Coffey M, Johnson H, Scanlon P, Foley M, Stronge J, et al. Universal vs. risk factor-based screening for
13. Green JM, Hewison J, Bekker HL, Bryant LD, Cuckle HS. Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess 2004;8:iii, ix–x, 1–109.
Serve As a Reviewer for Obstetrics & Gynecology The Editors of Obstetrics & Gynecology are looking for new peer reviewers.* Sign up to become a peer reviewer by going to ong.editorialmanager.com and downloading the “Reviewer Contact Information Update Form” (located under“Files & Resources”). Please fill the form out electronically and submit it by e-mail to the editorial office ([email protected]). *In recognition of their time, effort, and expertise expended, reviewers of manuscripts for Obstetrics & Gynecology are eligible to receive continuing medical education credits. ACCME Accreditation The American College of Obstetricians and Gynecologists is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. AMA PRA Category 1 Credit(s)™ The American College of Obstetricians and Gynecologists designates this manuscript review activity for a maximum of 3 AMA PRA Category 1 C redits.™ Physicians should claim only the credit commensurate with the extent of their participation in the activity. College Cognate Credit(s) The American College of Obstetricians and Gynecologists designates this manuscript review activity for a maximum of 3 Category 1 College Cognate Credits. The College has a reciprocity agreement with the AMA that allows AMA PRA Category 1 Credits™ to be equivalent to College Cognate Credits. College Fellows will be awarded credit for a maximum of five reviews yearly. Those who are not College Fellows will receive e-mail documentation approximately1 month after completion of the review, which can be submitted to an accrediting body for credits. rev 7/2013
1338
Minkoff and Berkowitz
Routine Genetic Counseling
OBSTETRICS & GYNECOLOGY
