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ability to handle genetic bad news without long-term distress give cause for
optimism [
50
,
51
].
The American College of Medical Genetics and Genomics (ACMG) issued a set
of guidelines in 2013 regarding incidental fi ndings [
52
]. The guidelines recommend
that disease-causing variants from 57 known genes, related to 24 disorders, be
returned to the ordering physician regardless of patient preference. Various commen-
taries expressed concern over these recommendations, leading to a clarifi cation state-
ment on the ACMG's website which emphasized, among other things, that variants
of unknown signifi cance were not included in the recommended list. Rather, the list
included only a set of variants for which there is “signifi cant potential for preventing
disease morbidity and mortality if identifi ed in the presymptomatic period” [
53
].
But there are other questions that the guidelines do not address. What are the
researcher's or health care provider's obligations to follow up with the individual as
new knowledge accrues? If a person's genotype is of unknown signifi cance today,
but understood and actionable 10 years later, should he be made aware? What if the
signifi cance is known and dire, but
not
actionable? These will surely be topics of
debate in the coming years.
3.5.3
Training
As biology and biomedicine become increasingly data driven, the curricula for train-
ing both biomedical researchers and clinicians will need to include more quantitative
components. Basic statistics and computer science will be mandatory. Researchers
with some basic programming skills will be at a signifi cant advantage, both for basic
data formatting tasks and use of common software packages such as R and
Bioconductor. Perhaps the most basic, but also the most important, addition to train-
ing will be increasing the skill of
numeracy
, that is, the ability to reason with and
apply numerical concepts. Researchers, care providers, and patients alike will all ben-
efi t from greater numeracy, enabling, for example, interpretation of probabilities.
On the clinical side, recent surveys have shown that only slightly more than half
of primary care physicians report feeling confi dent in interpreting genetic test
results, and 20 % report having had no genetics education [
54
]. In addition to quan-
titative sciences, medical training programs will need to make genetics, biomarkers,
and other “molecular medicine” courses part of their core curricula in order to meet
the needs of clinicians in the post-genome era.
3.5.4
Participatory Medicine
Patients need not just sit back and wait for the benefi ts to accrue. There are a number
of ways in which they can maximize the likelihood that they themselves will see the
benefi t of personalized medicine. First and foremost, patients can make sure they
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