GENEWATCH
 
THE FAST AND THE FURIOUS
By Lori Haymon
 

Non-invasive prenatal diagnosis, or NIPD, is scientifically groundbreaking. It completely eliminates the risk of miscarriage, which has been associated with prenatal genetic diagnosis for the past forty years.2 Based on the discovery of cell-free fetal DNA, researchers are now able to diagnose disorders and disease from just 10 ml of blood, and as early as 6-10 weeks after gestation.3 With the development of faster and more comprehensive DNA analysis, NIPD is projected to become the earliest, most comprehensive, and least expensive means of prenatal genetic diagnosis.4 So why are so many scholars concerned by the prospect of clinical NIPD?

The ethical and social implications of NIPD are as extensive as its promised applications. Scholars and advocates from various fields argue that NIPD will not only exacerbate current ethical issues in prenatal diagnostic and screening, but it will also create entirely new issues. NIPD, some contend, will erode informed consent, blur the line between medically necessary and non-medical fetal testing, obviate the disability rights movement, undermine disability treatment efforts, and reshape consideration of reproductive freedom. Some scholars have gone so far as to call NIPD a sham and a cover-up for modern-day eugenics.5

                                              

Increasing fetal sex preference in the U.S.

Fetal sex determination is generally not for medical reasons.6 Instead, even in the U.S., the more common reason for pre-conception and prenatal sex determination is preference.7 The application of NIPD to fetal sex determinations means faster decisions, and potentially rash and irreversible decisions.

Most studies in the U.S. conclude that the majority of Americans prefer either the same number of children of either sex, or have no preference at all.8 Still, a "fundamental dynamic between technology and culture" exists, which is able to "coax cultures one way or the other by making it easier" to do what was difficult before.9 To this effect, one study on sex preference in the U.S. has already shown that technology can affect these currently held values.10

Confronted by a hypothetical pill that would simplify and ensure fetal sex, respondents in this study changed their views on using preconception sex-selection technologies.11 Once the hypothetical pill was introduced, respondents willing to use sex selection technology increased by 10%, and the number of respondents who answered "undecided" rose to above 20%.12 While a majority of the respondents did not change their responses, those who did reveal an affect that is very likely to be seen with the widespread use of NIPD.

Certainly the cumbersome nature of prenatal genetic screening and diagnostics has acted as a "checkpoint," providing a reason to consider whether the sex of the child, or any other trait for that matter, was really worth the additional procedures, associated risks, and expense. NIPD is likely to eliminate that checkpoint. Moreover, many expectant parents may find themselves changing their views on what trait preferences they have and what technology they are willing to use from the comfort of their own homes.

                                            

Providing Information of questionable benefit to patients who may not be adequately "informed"

Informed consent and informed decision-making are both cornerstones of medical care and medical research.13 A few of the commonly agreed upon aspects of informed choice include:

information about the test itself, including the limitation and significance of the results; written consent; and reflection time.14

One study, performed in the UK, found that health professionals are more likely to follow the informed consent practices associated with prenatal screening, as opposed to those associated with invasive prenatal diagnosis.15 In a multiple vignette study, researchers found that while 96% of clinician respondents indicated that written consent should precede invasive prenatal diagnosis, only 68% indicated the same for NIPD testing. Similarly, reflection time was important to 94% of the clinicians responding to the invasive prenatal diagnosis vignette, but to only 76% of those responding to the NIPD vignette.

Whether NIPD will provide medically relevant information for most conditions is also debatable. As David Litwack, AAAS Science and Technology Policy fellow, stated with regards to direct-to-consumer tests, "[i]n most cases, the results of genetic testing cannot be used for practical decisions about health care."16 In part, this is because patients have the same options before, as after genetic tests are performed. Yes, the medical information available has changed. But the medical actions that can be pursued have not. Patients are not being provided with additional or alternative medical courses of action - just predictive information.

As such the ability of physicians and other medical professions to make this information functional and to facilitate informed decision-making becomes imperative. According to Theresa M. Marteau and Elizabeth Dormandy, "[t]hirty years after the routine introduction of prenatal diagnostic tests we remain unaware of how women are counseled, the information and support they receive, and how this affects the quality and type of the quality and type of decisions they make."17 So whether patients will even benefit from the "information explosion"18 that NIPD promises is uncertain.

 

Reinforcing the current genetic testing trends of faster, rather than accurate results

Moreover, despite confident promotion by researchers and providers, NIPD is not fully diagnostic. It is limited to identifying only paternally derived, or de novo genetic mutations.19 Nor is NIPD less expensive than current invasive testing20 - in part because isolating cell-free fetal DNA from the maternal serum is a "significant technical challenge."21 Fetal cell-free DNA, which is the basis of NIPD, is outnumbered 20 to 1 by cell-free fetal DNA belonging to the pregnant woman.22 This also affects the verification and confirmation of NIPD.

Thus far, NIPD results have only been verified through the use of amniocentesis and CVS.23 But verification by the very technology that NIPD is supposed to replace would directly negate its benefit, and is highly unlikely to transition to the clinical setting. If NIPD is to be clinically implemented some procedure for confirmation is necessary, however, because NIPD has yet to reach diagnostic-level accuracy.24

In future developments of NIPD, researchers and developers are likely to find solutions to all of the listed limitations. What is troubling is that NIPD may be implemented clinically long before they do.

NIPD may become the standard of care for prenatal diagnosis, whether it reaches diagnostic-level accuracy or not.25 For one thing, novel diagnostic tests can be introduced into the clinical setting without outside regulatory requirements, as long as they are developed and validated by the original providers.26 Some applications of NIPD may bypass clinical validation completely by being offered as direct-to-consumer products. However, the DTC market has been anything but accurate in its promotion of valid testing results. Just last year, investigations by the United States Government Accountability Office (GAO) found that "identical DNA samples yield contradictory results," leading to their conclusion that DTC test results are misleading and of little or no practical value.27

Like any other genetic test, NIPD will provide "predictive," not "certain" tests results. But NIPD is likely to be even more misleading, if for no other reason than because of the impression of accuracy that submitting blood (as opposed to saliva) carries. Moreover, prospective parents may be more vulnerable and more likely to "seek a conclusive determination as to whether they are going to have a healthy baby."28 The prospect of pregnant women making irreversible decisions based on inconclusive NIPD information is unacceptable.

 

Reshaping reproductive freedom

Developers and supporters of NIPD often describe the procedure as a corollary right flowing from the right to an abortion, a means of providing "prospective parents [with] preconception or prenatal information about the genetic characteristics of offspring, so that they may decide in a particular case whether or not to reproduce."29 Indeed, clinicians are legally obligated to provide pregnant women with all sufficient information necessary to make informed reproductive decisions.

NIPD fits well into the current goals for advancing a woman's right to reproductive choice. But it is also likely to reshape current conceptions of reproductive freedom, raising new dilemmas for both pro-life and pro-choice communities.

"Pro-choice" may be defined as the recognition and defense of a woman's right to self-determination regarding sex, sexuality, reproduction, and motherhood; and the promotion of equal access to abortive services, reproductive services, and sex education. The National Abortion and Reproductive Rights Action League (NARAL) webpage advertises its belief "in reducing the need for abortion" by way of "improving access to birth control and teaching young people comprehensive sex education." Clinical implementation of NIPD raises new questions. Will sex education now include genetic inheritance and disability if women will be routinely confronted with decisions based on prenatal genetic information? How different is the issue of choosing to have this pregnancy, and choosing to have this particular pregnancy?30 To what extent does trait-selection abortion coincide with being pro-choice? And is a "healthy pregnancy" destined to become a list of wanted versus unwanted traits?

For the pro-life community, NIPD brings to the forefront the question of whether one should bear children with life-altering or life-threatening genetic conditions. It may also shift the pro-life focus away from the usual adoption alternative. NIPD will most often be used by expectant mothers of higher income, whose motivation for considering abortion may not be "whether a woman can raise this child," but rather if this is "the child she wants to raise." Hence, the usual adoption alternative (i.e. bringing the pregnancy to term and putting the child up for adoption) will no longer suffice. NIPD may also "normalize" abortions based on prenatal diagnostics, and according to some, trivialize any significance associated with terminating a pregnancy. That "[e]very pregnancy becomes a 'tentative pregnancy' pending the results of prenatal screening,"31 seems to be the eventual result of NIPD.

Wherever one stands on the pro-choice, pro-life debate, NIPD will change the medical context in which women make reproductive choices. As one commentator notes, "[e]ach accurate detection presents the possibility of aborting a very sick fetus, which, if born, could cost its parents (and its parents' insurer) large amounts of money. Thus, the medical necessity standard may be a moot point when it comes to coverage of [NIPD]."32 That NIPD provides a benefit to third-party payers is also troubling.33 In light of these observations, the question must be asked whether NIPD will provide a woman with information that she can use to make her decisions, or information that makes the decision for her. As George Annas states, "[w]hen non-invasive prenatal genetic testing is available and reasonably priced, there will be tremendous pressure from many sources to use them."34 

 

Exacerbating the tensions between disability rights and prenatal diagnosis

Although the general consensus is that "the purpose of prenatal testing is to enhance reproductive choice for women and families - not to decrease the number of children with disabilities who are born," it is difficult to ignore the "tension between the goals of enhancing reproductive choice and preventing the births of children who would have disabilities."35

The long history of invidious discrimination against persons with disabilities rightly instructs fears about continuing developments in prenatal genetic diagnosis. Like discrimination generally, prenatal diagnostic testing focuses solely on a specific trait, allowing that trait to stand in for the entire worth of an individual.36 Disability advocates argue, among other things, that prenatal diagnosis techniques reinforce the medical model that disability itself is the problem to be solved.37

NIPD is certainly part of a medical model that focuses on "solving the problem" of disabling genetic conditions. And even in the situation where test results are used merely to prepare for having a child with a disability, testing may still "send the message that there's no need to find out about the rest"- whether or not the trait is present is all that matters.38 

Many, if not most, of us would have trouble with the idea that "someone like you will never be born again." With NIPD, the option of early termination not only means that someone with Down's syndrome, or Tay-Sachs, or sickle-cell anemia, may never be born again. It may also imply that someone with such a condition should never have been born. Harriet McBryde Johnson expressed the same in her critique of the writings of Peter Singer (a well-known advocate of selective abortion of disabled pregnancies):

"He insists he doesn't want to kill me. He simply thinks it would have been better, all things considered, to have given my parents the option of killing the baby I once was, and to let other parents kill similar babies as they come along and thereby avoid the suffering that comes with lives like mine and satisfy the reasonable preferences of parents for a different kind of child. It has nothing to do with me. I should not feel threatened."39

Thus, while discrimination against persons living with disabilities is no longer tolerated, the termination of diseased/disabled pregnancies is not only promoted, it threatens to become common practice.40 How will we resolve this contradiction in contemporary goals?

And what about "less than life-altering" genetic conditions, such as cleft lip, or hereditary deafness, or ectrodactyly (the deletion of digits on the hands and/or feet)? The account of Bree Walker Lampley, whose choice to have children with her genetic condition, ectrodactyly, and the backlash she encountered from those who saw her choice as "irresponsible" and "cruel," is informing. It reflects just how far we are from a consensus on the definition of serious medical conditions.41

One study of 1,481 certified genetic professionals42 showed substantial overlap among what genetic/congenital conditions were considered "lethal", "serious but not lethal", and "not serious".43 Sixty-four percent of the conditions listed as lethal by some respondents were considered "serious but not lethal" by others. Fifty-one conditions appeared in all three categories. These conditions included Down's syndrome, cystic fibrosis, and Huntington disease, as well as, ectrodactyly, and hereditary deafness.44

How the widespread use of NIPD will affect our perspective of disability must be addressed. Whether NIPD should be used to select against a pregnancy with the potential to have such a seemingly minor genetic condition as a missing finger or toe must also be considered.

 

Prenatal genetics and eugenics: a slippery slope

NIPD is likely to increase the frequency of selective abortions. As one commentator notes,

" . . . from a dollars-and-cents perspective, [prenatal screening] is an unnecessary expense. Developers of prenatal testing, however, have justified these unnecessary expenses by demonstrating through cost-effectiveness studies that such costs can be offset to the private insurer or the public healthcare system, provided that enough children prenatally identified with Down syndrome are terminated."45

The orientation of current developments in the prenatal field has led many to argue that technology such as NIPD may lead to institutionalized eugenics.46 Other scholars note that procreative liberty provides for the right not to use reproductive genetics, as well as the right to use reproductive genetics,47 and that we are not likely to enter a situation of forced genetic selection.

The "old eugenic" practices of involuntary sterilization and confinement48 are not likely to result from the widespread use of NIPD. Still, there is a crucial difference between "preventing children from being born with Down's Syndrome" and "preventing children with Down's Syndrome from being born."

According to many scholars, the "new eugenic" movement focuses on the offspring directly. Rather than involuntary sterilization, new eugenic techniques are based on individual choice. Choices made based on scientifically accurate screening, diagnosing, and selective termination. The purpose of new eugenic techniques is to give "parents power over their children that parents cannot exercise once the children are born",49 or to provide parents with the "discretion to select-or not-the characteristics of [one's] offspring."50 Even in the most favorable light, these goals are very difficult to separate from "improving the human population by controlled reproduction and decreasing the occurrence of undesirable characteristics and conditions,"51 the very definition of eugenics.

The ways in which NIPD and other forms of genetic diagnostics threaten our preservation of a non-eugenic society cannot be taken lightly. There appears to be no end to the possible uses or clinical applications of NIPD. In fact, the only plateau foreseeable for prenatal genetic diagnosis, now, will be policy based. For the public and policy-makers, it is important to recognize that each step taken towards more controlled forms of reproduction must be implemented with caution, if implemented at all.

Lori Haymon is a recent graduate of the University of Illinois School of Law, an intern with the Council for Responsible Genetics, and author of the CRG report "Non-Invasive Prenatal Genetic Diagnosis (NIPD)."


Endnotes

1. John A. Robertson, Preconception Gender Selection, 1 Am. J. of Bioethics 2, 4 (Winter 2001).

2. F. Lucy Raymond, Molecular Prenatal Diagnosis: the Impact of Modern Technologies, 30 Prenatal Diagnosis 674, 674 (2010).

3. Carolyn J. Chachkin, What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the Transformation of Modern Prenatal Care, 33 Am. J. L. & Medicine 9, 9 (2007).

4. Y.M. Dennis Lo, Noninvasive Prenatal Diagnosis in 2020, 30 Prenatal Diagnosis 702 (2010) (hereinafter NIPD 2020).

5.             Mark W. Leach, Abortions on Disabled Babies: The Prenatal Testing Sham, LifeNews.com, available at http://www.lifenews.com/2011/05/25/abortions-on-disabled-babies-the-prenatal-testing-sham/ (May 25, 2011, 11:59 AM).

6. According to some scholars, legitimate reasons for sex selection exists, including adherence to certain religious beliefs and cultural traditions, Robertson, supra note 1, at 3, but these are often not medically motivated rationales.

7. T. Mukherjee, et al., Unexpected Gender Bias Found in IVF Cycles for Sex Selection, 88 Fertility & Sterility (Supplement 1) S134 (2007). (A 2007 study found that only 4 of 30 reviewed in vitro fertilizations with pre-implantation genetic diagnosis procedures were conducted to avoid sex-linked diseases. The rest were performed for elective sex selection.)

8.             Edgar Dahl, et al., Preconception Sex Selection Demand and Preferences in the United States, 85 Fertility and Sterility 468, 473 (Feb. 2006) (concluding, among other things, that the demand and preference among the US general population for certain fetal sex is low, and noting "[t]he results of our study are consistent with findings from prior social research.").

9. William Saletan, Fetal Subtraction: Sex Selection in the United States, SLATE.com, available at www.slate.com/id/2188114 Slate (posted Thursday, Apr. 3, 2008, at 7:59AM ET)

10. Dahl, supra note 19, at 473 (concluding, among other things, that the demand and preference among the US general population for certain fetal sex is low, and noting "[t]he results of our study are consistent with findings from prior social research.").

11. Id.

12. Id.

13.Michael J. Malinowski, Choosing the Genetic Makeup of Children: Our Eugenics Past - Present and Future?, 36 Conn. L. Rev. 125, 133 (2003-2004). (hereinafter Our Eugenics Past)

14. Id.

15.Ananda van den Heuvel et al., Will the Introduction of Non-invasive Prenatal Diagnostic Testing Erode informed Choices? An Experimental Study of Health Care Professionals, 78 Patient Education and Counseling 24 , 28 (2010) ("[H]ealth care professionals are likely to approach counseling and service provision of non-invasive diagnostic tests in a clinically significantly different way to invasive procedures.")

16.Kat Zambon, Case Studies Illustrate the Dilemmas of Genetic Testing, American Association for the Advancement of Science, www.aaas.org (posted April 29, 2011) (last visited June 28, 2011) (quoting David Litwack).

17. Theresa M. Marteau & Elizabeth Dormandy, Facilitating Informed Choice in Prenatal Testing: How Well Are We Doing?, 106 American Journal of Medical Genetics 185, 189 (2001).

18. NIPD 2020, supra note 3.

19. Raymond, supra note 1, at 677. As a consequence of fetal DNA accounting for only 5-10% of the DNA in the maternal serum, current technology is best equipped at isolating fetal DNA by distinguishing paternally derived genes in fetal DNA that are not found in the maternal DNA. Id.

20. Melissa Hill et al., Incremental Cost of Non-invasive Prenatal Diagnosis Versus Invasive Prenatal Diagnosis of Fetal Sex in England, 31(3) Prenatal Diagnosis 267 (Mar. 2011);

21.Caroline F. Wright, The Use of Cell-Free Fetal Nucleic Acids in Maternal Blood for Non-invasive     Prenatal Diagnosis, 15 Human Reproduction Update 139, 140 (2009).

22. Id.

23. Y.M. Dennis Lo et al., Digital PCR for the Molecular Detection of Fetal Chromosomal Aneuploidy, 104 Proc. Nat'l. Acad. Sci.13116 (2007); Chachkin, supra note 2, at 11.

24. CVS and amniocentesis are the adopted standard of care methods for prenatal genetic diagnostic and both procedures are held to 98-99% accuracy standards. Chachkin, supra note 2, at 35.

25. See Chachkin, supra note 2, at 37.

26. Peter A. Been and Audrey R. Chapman, Ethical Challenges in Providing Noninvasive Prenatal Diagnosis, 22 Current Opinion in Obstetrics and Gynecology 128, 129 (2010); see also The Genetics and Public Policy Center John Hopkins University, Reproductive Genetic Testing: A Regulatory Patchwork, ("In the United States, there is no uniform or comprehensive system for the regulation of assisted reproductive technologies, including reproductive genetic testing. The federal government does not have direct jurisdiction over the practice of medicine. Moreover, it has banned all federal funding for research involving the creation or destruction of embryos. Consequently, the regulatory framework for reproductive genetic testing in the United States is characterized by a patchwork of federal and state regulation."), available at http://www.dnapolicy.org/policy.international.php?action=detail&laws_id=63 (January 2004).

27. United States Government Accountability Office, Direct-to-Consumer Genetic Testing: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices (Thursday, July 22, 2010)

28. Michael J. Malinowski, Coming into Being: Law, Ethics, and the Practice of Prenatal Genetic Screening, 45 Hastings L. J. 1435, 1494 (1993-1994).

29. John A. Robertson, Preconception Gender Selection, 1 A. J. Bioethics 1, 4 (Winter 2001).

30. See Parens, supra note 44, at S15 ("According to Asch, most abortions reflect a decision not to bring any fetus to term at this time; selective abortions involve a decision not to bring this particular fetus to term because of its traits. Pro-choice individuals within and outside the disability community agree that it is morally defensible for a woman to decide [against an unwanted pregnancy] . . . . The question is whether that decision is morally different from a decision to abort an otherwise-wanted fetus.")

31. Mitchell CB. The Church and the New Genetics in Genetic Ethics (Kilner JF, Pentz RD, Young FE, eds., WM B Eerdmans Publish'g Co.) (1997).

32. Chachkin, supra note 2, at 40.

33. Chachkin, supra note 2, at 40 (reasoning that the likely consequence of clinical NIPD is that the cost of bringing a child to term with predicted disabled traits may very well become disfavored, when compared to covering NIPD tests.)

34. George J. Annas, Ethical aspects of non-invasive prenatal diagnosis: medical, market, or regulatory model?, 47 Early Human Development (Supplement) S5, S11 (1996).

35. Erik Parens & Adrienne Asch, The Disability Rights Critique of Prenatal Genetic Testing: Reflections and Recommendations, 29 The Hastings Center Report (Special Supplement) S1, S6 (Sep. - Oct., 1999).

36. Id. at S13.

37. Id. at S1 (emphasis added).

38. Id. at S13.

39. Id. at 40 (quoting Harriet McBryde Johnson, Unspeakable Conversations, New York Times Magazine Feb. 16, 2003 Sunday, Late Edition.

40. Joan Retsinas, The Impact of Prenatal Technology Upon Attitudes Toward Disabled Infants, 9 RES. SOC. HEALTH CARE 75, 89-90 (1991).

41. See also Dorothy C. Wertz & Bartha Maria Knoppers, Serious Genetic Disorders: Can or Should They be Defined, 108 Am. J. of Medical Genetics 29 (2002) (hereinafter Serious Genetic Disorders).

42. Including individuals certified by the American Board of Medical Genetics, the American Board of Genetic Counseling, the European Society of Human Genetics, the Canadian College of Medical Genetics, or the Ibero-American Society of Human Genetics (an organization of professionals from Spanish and Portuguese-speaking nations). The majority of the respondents were members of the Canadian College of Medical Genetics, with less than 40% of the respondents were from Spanish or Portuguese-speaking nations. Dorothy C. Wertz & Bartha Maria Knoppers, Serious Genetic Disorders: Can or Should They be Defined, 108 Am. J. of Medical Genetics 29 (2002) (hereinafter Serious Genetic Disorders).

43. Serious Genetic Disorders, supra note 89, at 31-33.

44. Id.

45. Mark W. Leach, Abortions on Disabled Babies: The Prenatal Testing Sham, LifeNews.com, available at http://www.lifenews.com/2011/05/25/abortions-on-disabled-babies-the-prenatal-testing-sham/ (May 25, 2011, 11:59 AM).

46. Id.

47. John A. Robertson, Genetic Selection of Offspring Characteristics, 76 B.U.L. Rev. 421, 446 (1996) (hereinafter Genetic Selection of Offspring).

48. Holtzman, supra note 831, at 398.

49. Genetic Selection of Offspring Characteristics, supra note 64, at 480.

50. Id. at 479.

51. "Eugenics." Oxford American Dictionaries. (Oxford University Press, 1999).


 
 
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