Direct-to-Consumer Fetal Sex Prediction Tests: the US is Not Immune to Sex Selection

In January, Dutch researchers published a study relating to a new method for screening maternal blood to determine fetal sex as early as seven weeks after conception. Although this test reports 100% accuracy, other direct-to-consumer (DTC) fetal sex prediction tests that advertise online offer similar tests with unregulated accuracy.


Recently, these tests have come under increased scrutiny based on the possibility that consumers both in the US and abroad may purchase the tests as a means obtaining information about fetal sex as the first step in seeking a sex selection abortion. Unlike an ultrasound (performed at 18-20 weeks in the second trimester), these DTC tests advertise the ability to predict fetal sex between 5-10 weeks in the first trimester. This offers parents an opportunity to determine fetal sex and make corresponding planning decisions to produce a child of a specific sex that may have been previously unaffordable (through means such as preimplantation genetic diagnosis or sperm selection) or inaccessible (second trimester sex selection abortions).


Three main countries- China, India, and Korea- are often used as examples of countries with socio-cultural environments that contribute to male child bias in attitude and action. Literature contains extensive discussion on how and why socio-cultural attitudes have traditionally, and still to a large extent, continue to favor male children and perpetuate extensive gender discrimination within the respective countries. The magnitude of bias is reflected in the skewed population ratios such as the 50 million “missing” females that should otherwise exist in the Chinese population. These deeply entrenched reasons for male bias and the pervasiveness of these attitudes means that even despite legal steps to explicitly limit or prohibit sex selection abortions, for decades both parents and practitioners have ignored laws designed to prevent this practice in each respective country.


In recognition of this issue, some DTC fetal sex prediction companies specify that they do not sell the product to consumers in China and or India. However, some companies have not issued such restrictions, and consumers in India or China can locate these products by a simple internet search. In India, scholar and activist Dr. Sabu George filed a lawsuit against Google and Yahoo seeking to enforce an Indian law against advertising products that reveal fetal sex. While the search engines have pulled some advertisements, internet searches still provide links to the DTC fetal sex prediction company websites.


The potential of using fetal sex prediction tests as a means of sex selection is not only a problematic issue limited to other countries. Both attitudinal research and recent litigation suggests that some parents in the US may use these tests for sex selection purposes.


Despite a notion that the general US population does not possess a preference for a child of a specific sex, statistics suggest this assumption may not be correct. Numerous studies demonstrate that members of the US population do possess attitudinal bias favoring male children, either as only children or first born. Some parents not only hold this male child bias, but are also willing to translate these attitudes into practice to achieve the desired outcome.


Another lawsuit against the Baby Gender Mentor product, Duffy et al. v. Acu-Gen Biolabs et al., also confirms these attitudes exist within the US population. Plaintiffs allege the tests were inaccurate and falsely predicted their baby’s sex, which caused them emotional distress and had a “devastating effect.” One plaintiff asserts that the incorrect test results contributed to the demise of her marriage because her husband wanted a boy, while another plaintiff upon learning the results “struggled, needlessly, with whether to keep [the pregnancy.]”


Granted, vast socio-cultural differences exist between counties such as India, China, and the US that could lead to less devastating population wide outcomes. However, does this mean we should be less concerned that only a small percentage of the population may use these tests for sex selection purposes? What can we learn from these countries when formulating our policy relating to how these tests can or cannot be used?

--Katherine Drabiak-Syed

In the Literature: Altruism, the Self and Genetic Research

Ethicists and medical researchers often think about the barriers to participation in research. People want to know exactly what keeps potential participants away from a valuable research project? Likewise, many want to know what could be done to (safely and fairly) lower the barriers to participation in research. The opposite question, however, is equally interesting: Why do people do it? What motivates patients and others to consent to medical research?

Nina Hallowell, et al. examine these questions in the context of cancer research and biobanks in their recent paper “An investigation of patients’ motivations for their participation in genetics-related research” (J Med Ethics. 2010 Jan;36(1):37-45). The authors conducted interviews with 59 patients formerly enrolled in research studies at a regional genetics service (Wessex Clinical Genetics Service, Southampton, UK). After pouring through what must have been a large stack of transcripts, the authors identified three frequently expressed motivations: 1) “Selfish” – subjects expected to benefit from the research by receiving better care or other rewards; 2) Familial altruism – subjects wanted to contribute to efforts that might help future cancer patients (including grandchildren) in their families; and 3) Social altruism – subjects expressed a desire to do something that would benefit society and improve the health of all. After using these categories to evaluate the motivational statements, the authors declined to assert that any single type was a sufficient description of why patients consent to genetic research studies. They write: "these framings were frequently juxtaposed within the interviews, so that, in practice, it was difficult to characterise interviewees’ accounts as either self- or other-oriented". And again: "drawing upon any one motive to account for one’s behaviour in this context is not sufficient, for each motive would appear to impact upon, alter and modify others in a recursive or dynamic fashion".

They also provide a graphic to help us visualize the inter-related motivators in the genetic research participation engine:


My thoughts:

While I do not doubt that motivations are multi-layered and that a single individual may be motivated simultaneously by personal need and social altruism, I think the authors decided to down play the importance of the "personal framing" (or “selfish reasons”) in subjects’ decisions to consent to genetic research. In fact, the paper reports: "The majority of interviewees, like P124, offered personally motivated reasons for their research participation at some point in their interview". The importance of self-centered motivations is also clear in the graphic above. In other words, while it may be difficult to untangle these motivations, the gears might stop turning altogether if one were to remove "personal framing". I do not think the authors would disagree with me (and if they read this post, they are more than welcome to comment); perhaps the authors do not want to lose the point that altruism cannot be a stand-alone motivator. In fact, the discussion ends with a compelling statement:

Such observations suggest that we may need to rethink the concept of altruism … the “moral character of research participation”. Also, as we noted earlier, we need to recognise that when it comes to accounting for research participation we can no longer regard altruism and selfishness as incompatible or oppositional concepts. Indeed, it would appear that research participation is experienced as a more ethically contentious activity than has heretofore been assumed.

Reference:

Hallowell N, Cooke S, Crawford G, Lucassen A, Parker M, Snowdon C. An investigation of patients' motivations for their participation in genetics-related research. J Med Ethics. 2010 Jan;36(1):37-45. PubMed PMID: 20026692.

Related:

Dixon-Woods M, Tarrant C. Why do people cooperate with medical research? Findings from three studies. Soc Sci Med. 2009 Jun;68(12):2215-22. Epub 2009 Apr 24. PubMed PMID: 19394741.

Geller G, Doksum T, Bernhardt BA, Metz SA. Participation in breast cancer susceptibility testing protocols: influence of recruitment source, altruism, and family involvement on women's decisions. Cancer Epidemiol Biomarkers Prev. 1999 Apr;8(4 Pt 2):377-83. PubMed PMID: 10207643.

Treloar SA, Morley KI, Taylor SD, Hall WD. Why do they do it? A pilot study towards understanding participant motivation and experience in a large genetic epidemiological study of endometriosis. Community Genet. 2007;10(2):61-71. PubMed PMID: 17380055.

Other Recent Predictive Health Ethics Articles – PubMed, Nov 2009 -Jan 2010

-- J.O.

Patient Attitudes Toward Genotyping: Willingness to Donate

The November 2008 issue of Obstetrics & Gynecology included an article addressing an Indiana University study which sought to ascertain the willingness of women to donate DNA specimens. The article, “Patient Attitudes Toward Genotyping in an Urban Women’s Health Clinic” (David M. Haas, Jamie L. Renbarger, Eric M. Meslin, Katherine Drabiak, and David Flockhart), acknowledges the great promise of the emerging fields of genotype association studies and pharmacogenetics, which will theoretically allow for targeted medical interventions, personalized drug therapies and the more efficient allocation of healthcare resources. The study compared women’s willingness to donate DNA specimens via blood and saliva collection, and looked at several other factors to confirm the findings of previous studies regarding which of those factors predicate a willingness to donate. The authors found that more women are willing to donate DNA using saliva than blood, and that higher levels of education (college and beyond) and greater knowledge of genes and DNA increase women’s willingness to donate.

So how do these findings translate into ethical practice? How will they inform the future collection of samples for both medical and research purposes? It seems that researchers and practitioners should bear in mind that less-invasive methods of DNA procurement are preferred, and that education about purpose and use be stressed during the informed consent process. When asked about the translational implications of this study, Dr. Eric Meslin, co-author and Director of the Indiana University Center for Bioethics, said: “the key to success in any biobanking effort lies in the scientific community’s ability to both acquire and maintain the public’s trust. Informed consent may be evidence of the public’s willingness to permit specimens to be used for research, but consent should never be confused with the public’s willingness to trust science to do the right thing.” -Amy Lewis Gilbert

DNA Biobanks: The Five Minutes Between Nashville and Dundee

Here at PredictER we're very interested in the attitudes of healthcare professionals regarding DNA biobanking. In fact, we recently collaborated in a study of attitudes at a local children's hospital. Thus, I was excited to read the results of similar survey research from Vanderbilt University School of Medicine. David A. Leiman, Nancy M. Lorenzi and some other bioinformatics folk in Nashville appear to have been working on this topic for a few years now - beginning with focus groups in 2000 and including a recent international, comparative survey. In "US and Scottish Health Professionals' Attitudes toward DNA Biobanking" [J Am Med Inform Assoc. 2008 May-Jun;15(3):357-62. Epub 2008 Feb 28. | PMID: 18308988], the authors compare the attitudes of healthcare professionals in Nashville with the attitudes of those in Dundee, Scotland. While they expected that the difference between a mostly private (U.S.) and a more socialized (U.K.) healthcare system would impact attitudes, they discovered that the attitudes were not that far apart. Presumably, the authors thought that U.S. health professionals would worry that genetic information might be misused by insurance companies in the private healthcare system and, thus, would be less likely to support biobanking. As it turns out the attitudes of the two survey groups were very similar. Of the fifteen questions in common, significant differences in attitude were found on only three questions. The Dundee professionals were slightly less supportive of creating a DNA biobank and (most importantly) were less comfortable with the idea that they might be asked to consent patients for DNA samples.

In the discussion of the results the authors speculate that time constraints in Scotland might be at the root of this slight difference in professionals' attitudes about "consenting" patients into participating in the biobank:

While many U.S. practices are expected to see patients 12-15 minutes, Scottish doctors are expected to perform the same visit in 7-10 minutes. The additional burden of consenting, or even explaining a biobank project, may be an overwhelming challenge to integrate into the existing workflow.

Those "extra" five minutes of time in which to meet a patient's needs in the U.S., therefore, might account for the greater support ("Strongly Agree" versus "Agree") for DNA biobanking. The authors also mention the difficult nature of obtaining consent for this research – without a complicated: "Traditional consent procedures require researchers to contact participants each time a new investigation is undertaken with the same existing information". Let's hope that the validity of the patient's consent isn't sacrificed to better accommodate the busy schedules of the healthcare professionals. - J.O.

Who Do You Trust ... With Your Genetic Information?

A recent post by Jane Sarasohn-Kahn of Health Populi summarizes the findings of the 2008 Edelman Trust Barometer. For those of us interested in the progress of predictive health research, who "we" trust is a key question. If participants and the community at large, including the legislators representing the community, do not trust the researchers who form biobanks and enroll participants in longitudinal studies, support will decline: the money will begin to dry up, adverse legislations will be passed, and (most importantly) potential research participants will do something else with their time and good will. Researchers will be relieved, therefore, to discover that the "Biotech/Life sciences" industry is one of the most trusted sectors in North America - a few points ahead of "Banks" and a few points behind "Technology".

One must remember, however, that the survey is limited to what the PR firm calls "opinion elites" - people Edelman's considers to be influential or, even, trend-setters. I suspect that most medical researchers hope for a more diverse demographic. Of course, even if the survey had measured the attitudes of a broader population, the findings would not be all good news for the future of predictive health research studies. The "Insurance" industry ranked only above "Media companies" on the trust-barometer in North America, and was ranked last in the global survey. Will people, even "opinion elites", be willing to participate in research if they anticipate that the results may be used unscrupulously (or to their personal disadvantage) by a distrusted insurance industry? Would you? - J.O.

Cancer Patients' Attitudes -- New Predictive Health Ethics Research

Bioethics researchers Paul Helft of the Fairbanks Center for Medical Ethics, and Eric Meslin of the Indiana University Center for Bioethics publish paper on patient attitudes towards biobanks - Biomedical research, social science and ethics scholars have been working for over a decade to understand attitudes toward biobanking; "Cancer Patients' Attitudes Toward Future Research Uses of Stored Human Biological Materials" continues the progress of this research. In response to a request for a comment for this blog, Helft noted that a better understanding of attitudes toward biobanking will help to establish: "Policy and best practices for informed consent for future, unspecified research". This newly published research, conducted by Helft, Meslin, and others, provides valuable information to anyone interested in recruiting research participants for, or in shaping the development of, human biobanks. "Our study", Helft remarked, "was one of the few which have assessed the attitudes of patients who actually gave tissue to a biobank under these conditions". The authors found that a significant minority placed restraints on or had reservations about unrestricted future research on their stored tissue. "In developing policy and best practices", said Helft, "we need to understand this group’s attitudes better". - J.O.


Citation:

Helft PR, Champion VL, Eckles R, Johnson CS, Meslin EM. Cancer Patients' Attitudes Toward Future Research Uses of Stored Human Biological Materials. JERHRE. 2007; Sept;2(3):15-22.

Abstract: THE POLICY DEBATE CONCERNING INFORMED consent for future, unspecified research of stored human biological materials (HBM) would benefit from an understanding of the attitudes of individuals who contribute tissue specimens to HBM repositories. Cancer patients who contributed leftover tissue to the Indiana University Cancer Center Tissue Bank under such conditions were recruited for a mail survey study of their attitudes. Our findings suggest that a clear majority of subjects would permit unlimited future research on stored HBMs without re-contact and reconsent, and a significant minority appear to desire ongoing control over future research uses of their tissue. These differences merit further investigation and suggest that a policy of blanket consent for all future, unspecified research would be premature.

Source: http://caliber.ucpress.net/doi/abs/10.1525/jer.2007.2.3.15

[Note: PredictER Blog will announce more research from on attitudes toward predictive health research in the near future.]

Parents support genetic testing, DNA biobanks - even without available treatments.

From Child Health and Evaluation Research (CHEAR) Unit: U-M C.S. Mott Children's Hospital

UMHS Press Release:
Parents support genetic testing, DNA biobanks - even without available treatments.
C.S. Mott Children’s Hospital National Poll on Children’s Health finds 54% of parents endorse genetic testing even for diseases with no available treatments.

Website:
CHEAR - National Poll on Children's Health
C.S. Mott Children's Hospital National Poll on Children’s Health, Vol. 1, Issue 4; June 20, 2007
A publication from the University of Michigan Department of Pediatrics and Communicable Diseases and the University of Michigan Child Health Evaluation and Research (CHEAR) Unit.

DNA Biobanks and Genetic Testing - For Whom, and When?
Report Highlights
* 54% of adults endorsed genetic testing even if no effective treatment is available.
* 38% of parents were willing to have their children’s DNA stored in a government biobank.
* Adults were more likely to store DNA in a government biobank if they support genetic testing for diseases despite the lack of available effective treatment.
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Data Source
This report presents findings from a nationally representative household survey conducted exclusively by Knowledge Networks, Inc, for C.S. Mott Children’s Hospital. The survey was administered from March 14-26, 2007, to a randomly selected, stratified group of adults aged 18 and older (n=2,076) with and without children from the Knowledge Networks standing panel that closely resembles the U.S. population.

PredictER Note: SEE ALSO "Storing and Testing Children's DNA". Eye on DNA, June 20, 2007.