Increasing use of genome sequencing in clinical and research settings has led to a larger and more diverse population gaining access to genomic information about themselves or their families. Interest has also increased in using these technologies within the newborn setting, with the hope that genomic sequencing done at birth will provide a child with a “lifetime of personalized strategies for disease prevention, detection and treatment.”1 However, the possibilities for using genomic sequencing in newborns have sparked debates over what kinds of information parents should be given regarding adult-onset conditions or disease predispositions.2,3 These debates typically weigh the rights of parents to receive health information about their children and the possible benefits for newborns and families against the rights of children to make decisions about the kinds of genetic information they would want to know about themselves, commonly known as a “child’s right to an open future.”4 These issues are central to Ross and Clayton’s5 argument in this month’s Pediatrics against the mandatory disclosure of secondary results from genome sequencing research that are related to adult-onset conditions.
Ross and Clayton5 specifically address the potential for familial benefits from the disclosure of BRCA status through the Newborn Sequencing in Genomic Medicine and Public Health BabySeq study of genome sequencing in healthy and sick newborns.6 In addressing the limits of potential “familial benefit,” they raise the crucial issue of access and affordability of future clinical or preventive interventions related to adult-onset genomic information. The authors worry that “even if the secondary findings are valid, parental benefits are not assured unless participants understand their need for follow-up and can afford the necessary testing and treatments.”5
I am encouraged to see consideration being given to access to follow-up services and the impact that these kinds of information may have on the medically underserved. The proliferation of genomic screening in clinical, public health, and research settings has created an increasing need to more fully examine questions of equity and disparities when assessing the inherent value of genetic information for newborns and families. The authors recognize the difficult reality that the ability to act on genomic findings may be limited by a patient’s or research participant’s resources. This issue is, of course, not exclusive to genomics or research settings. For example, traditional newborn screening programs provide universal access for all newborns. However, there are disparities in newborn screening follow-up, including access to expensive diagnostic services and treatments.7 Although screening can be maintained at a population level, these disparities may ultimately lead to the decreased value of compulsory screening for some underserved newborns and their families.
Although the ability to act on genomic information may confer some benefit, we should avoid making assumptions about how patients and research participants from underserved communities may view the potential value of such information. This point is especially salient given the expanding notions of benefits related to genetic testing information, including the use of findings to shape preventive screening or other less “treatment-oriented” interventions, such as educational interventions related to future developmental disabilities. In fact, the use of genomic information to shape prevention strategies for adult-onset conditions may even help underserved families mitigate future expenses for unexpected medical care. We must be careful not to prematurely narrow the informational possibilities for families because of a perception that genomic information is not valuable to those with little or limited access to health care services.8
Returning genomic findings from research settings to underserved populations may also demand considerations beyond issues of access and perceptions of utility. For example, returning findings associated with adult-onset disease might actually put research participants and their families at further disadvantage if the information were used discriminatorily by future employers or insurance companies. This possibility is especially concerning for individuals who may wish to disclose their research findings to health care providers but are unprotected by current genetic privacy legislation.9 These concerns provide further support to Ross and Clayton’s5 argument that secondary findings should never be mandatorily returned to participants.
Ross and Clayton5 rightfully call for more psychological and clinical studies on the impact of secondary genomic findings. It is crucial that this research include the potentially unique concerns and considerations within underserved or underrepresented communities. Without these data, we may be reinforcing a system in which either disclosing or withholding genomic findings could lead to an inequitable outcome and could ultimately exacerbate the very health disparities we hope genomic medicine can help address.10 As is true of health care in general, genomic medicine should work toward a system in which the value of genomic information is not dictated by the recipient’s socioeconomic status. Because genomics is in many ways still in its infancy, it is now time to more fully consider justice and equity issues as we weigh rights, harms, and benefits in our dialogue about the value of adult-onset genomic findings.
I thank Drs Marsha Michie and Kyle Brothers for their review of this commentary.
Opinions expressed in these commentaries are those of the authors and not necessarily those of the American Academy of Pediatrics or its Committees.
COMPANION PAPER: A companion to this article can be found online at www.pediatrics.org/cgi/doi/10.1542/peds.2010-1031.
FUNDING: No external funding.
POTENTIAL CONFLICT OF INTEREST: Dr Goldenberg was a member of the Newborn Sequencing in Genomic Medicine and Public Health program’s Ethics and Policy Advisory Board.
FINANCIAL DISCLOSURE: The author has indicated he has no financial relationships relevant to this article to disclose.