GENETICS in MEDICINE | Volume 14 | Number 2 | February 2012
©American College of Medical Genetics
In the mid-20th century, the diagnosis of single-gene disorders
dominated the pediatric clinical genetics landscape. Families
with children who were ill for years received late diagnoses
of diseases that were considered rare, about which little was
known, and for which little could be done. Families were over-
whelmed by the sadness of the news and lack of information and
struggled alone, ofen never meeting another family with their
child’s diagnosis, particularly if they lived in rural areas or far
from an academic center. Parents coped valiantly against over-
whelming forces. My own research on the early families strug-
gling with a child with cystic fbrosis,1 ataxia- telangiectasia,2
and X-linked severe combined immunodefciency3 is illustra-
tive of the long-term impact on parents and siblings of these
rare single-gene disorders. Tese diseases were chronic and
had grim prognoses that were given by physicians whose task
was to do as much as they could with few medical solutions.
Parents who were not immobilized by distress channeled their
energy into fghting for a cure. Tey organized disease-spe-
cifc foundations, started support groups, and wrote books to
honor and give meaning to the life and death of their child.4
Dedicated physicians who saw child afer child aficted with
these diseases were not unafected and focused their intellec-
tual and emotional energies on the specifc condition. A note-
worthy example is Harry Shwachman, pioneering researcher
of cystic fbrosis, who directed his entire professional life to
caring for these children and their parents.5 Healthy siblings
grew up with overwhelmed parents who had to direct most of
their energy and passion to helping their aficted child. Years
later, brothers and sisters of these “frst families” found their
voices, and wrote books immortalizing the struggle of their ill
sibling as well as their own. Te younger sibling of a brother
with X-linked severe combined immunodefciency who had
lived for years in a plastic “bubble” wrote of her life and of the
impact of a brother or sister’s death on remaining siblings.6
Te daughter of one of the founders of the Canadian Cystic
Fibrosis Foundation published a memoir of her relationship
with her sister who died of cystic fbrosis.7
Fortunately, aided by the passion and fundraising of these
early families, medical advances in treatment, as well as early
identifcation through newborn screening, far better progno-
ses are now standard. Te eforts of these early families were
also successful in creating a vast network of national and local
support groups throughout the country. Advances in social
media and the Internet have allowed development of a world in
which parents can receive and give support to each other. With
improved medical outlook for these children and with parents
having more resources and feeling less isolated, families with
new diagnoses of single-gene disorders may be at less risk for
psychosocial difculty than in prior decades.
However, with the increased use of microarray analysis and
whole-genome or whole-exome sequencing in solving medical
puzzles, a new generation of frst families is emerging, highly
reminiscent of these early frst families. Circumstances related
to genetic testing are both similar and distinct from the past.
Families will struggle again with conditions that may prove
serious if not lethal, and with possibly little to no support from
other families. In fact, a recent study found that parents receiv-
ing results from microarray analysis felt confused and isolated,
and wished they could speak with another family in their situ-
ation.8 Tis should sound a warning not to repeat history.
Te output of new technologies, diferences in current medical
practice, and the collaborative nature of genetics research difer
from the past. For example, where previous technology yielded
results in response to suggestive symptoms, the output from
microarray testing and exome sequencing ofen yields disturb-
ing fndings, including false-positives, ambiguous results, and
variants of unknown signifcance. Identifcation of unnamed
and unknown disorders would be expected to create compel-
ling anxieties and uncertainties, both for the medical provider
as well as the family. In addition, output from genome and
exome sequencing ofen includes unanticipated positive results
not relevant to presenting symptoms. Unexpectedly, parental
genetic or medical conditions may be revealed. Tis informa-
tion overload may prove difcult for the physician, who must
decide what to disclose to the family, how, and when, causing
both physician and family to grapple with these complexities.
In the past, the pediatric specialist ordered the test and dissemi-
nated results; currently diverse medical providers request these
tests and there is little control or knowledge of how results are
communicated to the family.
Currently, the role of genetics is far more recognized in our
society, which may lead to decreased feelings of stigmatization.
On the other hand, popular understanding of genetics is ofen
misguided or incorrect. Te availability of genetic information
New “first families”: the psychosocial impact of
new genetic technologies
Joanna H. Fanos, PhD1,2
1Department of Pediatrics, Dartmouth Medical School, Hanover, New Hampshire, USA; 2Stanford Center for Biomedical Ethics, Stanford University, Stanford, California, USA.
Correspondence: Joanna H. Fanos (Joanna.Fanos@Dartmouth.edu)
Submitted 24 June 2011; accepted 22 September 2011. doi:10.1038/gim.2011.17
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Volume 14 | Number 2 | February 2012 | GENETICS in MEDICINE
FANOS | Psychosocial impact of new genetic technologies
on the Internet may be problematic in that it frequently contains
misleading information, causing needless concern. Further, the
dedicated sole researcher of prior generations has been replaced
by a trend toward more team eforts; this may ofer some emo-
tional protection to the physician but may interfere with the
strong physician–family bond that helped families.
Because the application of new genetic technologies difers in
important ways from the more limited but straightforward tests
of prior generations, these scientifc advances raise important
research questions for providers and families:
1. How well do parents and siblings understand microarray,
genome, and exome sequencing results?
2. What are the long-term emotional consequences for
parents and siblings of coping with the ambiguities and
uncertainty associated with these tests?
3. How efectively do families identify resources, particu-
larly support from others?
4. How well do medical providers manage these complex
fndings and facilitate interconnections between families?
Research on these questions could illuminate how providers
should manage transmission of test results to families. Factors
that may mitigate adverse outcomes, such as the Internet,
connections with others, and provider facilitation of support,
should be investigated. Identifcation of variables afecting risk
and promoting resilience will be essential in developing appro-
priate interventions for families.
Parents in this new generation of “frst families” are likely
to be at great risk of being overwhelmed and highly distressed
with few emotional resources available for each other, their
afected child, and their healthy children. Medical provid-
ers should be alert to potential challenges and risks and help
these families understand increasingly complex test results.
As new technologies ofer great promise in the detection and
diagnosis of disease, we should pay close attention to ensure
that a new generation of parents does not struggle alone and
that their children do not have to wait for years to share their
John P. Johnson provided thoughtful comments and insight. This
publication was developed with support from the New England
Genetics Collaborative, funded by a federal cooperative agree-
ment from the US Department of Health and Human Services,
Health Resources and Services Administration, CFDA 93.110,
U22MC10980. Additional funds were provided by NIH P50
HG003389 to the Stanford Center for Biomedical Ethics.
The author declares no conflict of interest.
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2. Fanos J, Mackintosh M. “Never again joy without sorrow”: effect on
parents of a child with ataxia-telangiectasia. Am J Med Genet 1999;87:
3. Fanos JH, Puck JM. Family pictures: growing up with a brother with x-linked
severe combined immunodeficiency. Am J Med Genet 2001;98:57–63.
4. Deford F. Alex: The Life of a Child. Viking Press: New York, 1983.
5. Fanos JH. “We kept our promises”: an oral history of Harry Shwachman.
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Sister at Any Age. Scribner: New York, 2004.
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and the need for clarity. Paper presented at the ELSI Congress 2011, National
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