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musings on genome medicine the value of family history沉思在基因组医学家庭历史的价值
Musings
Musings on genome medicine: the value of family history
Angus John Clarke
Address: Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
Email: clarkeaj@cardiff.ac.uk
and some knowledge of the diseases that have affected the
Abstract
various individuals but also a rich understanding of social
Will the routine availability of genome sequence information on
individuals render family history information obsolete? I argue context, occupation, family relationships (who talks to
that it will not, both because the taking of a family history has whom), and perhaps lifestyles and habits too. The process
other uses for the health professional, and because genome of collecting this information allows a relationship to
sequence data on their own omit the effects of numerous factors develop between professional and patient, which is useful
important for modifying risks of disease. These include infor- to the practitioner and valued by the patient [3]. Through
mation derived from factors downstream of genetic variants and
this, one can often sense the real concerns of the patient or
from upstream epigenetic effects. Further difficulties arise with
uncertainties relating to gene-gene and gene-environment inter- client: what do they fear? Do they feel destined to follow
actions, which may take decades to resolve if their resolution is the pattern of health and illness of one or more relatives?
even possible. On whose behalf are they most apprehensive? These
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