Genetics Affects On Cancer

How Genetics Affect Cancer

Introduction

Genetics research has led to an expanded view of health care and a different way of thinking about the meaning of the word patient. Our knowledge of the heritability of some diseases mandates a shift in the focus of care. A new perspective must consider the care of the individual along with the care of the family. In the context of genetics and genomics, these are interdependent. As a consequence, the sequence of disease assessment and management may alternate. It may begin with diagnosis of disease in an individual and follow to the diagnosis of similarly affected family member, or it may begin with family assessment and lead to predictive predisposition testing in unaffected individuals. This flexibility in perspective has been one of the principal conceptual outcomes of genetics research and disease management for families. In effect this perspective eliminated the health care provider's need to wait for symptoms (Bennett, 2010).

This new perspective applies to all disorders that are associated with changes to human genetic material. This includes heritable disorders caused by germline (transmitted to offspring) or de novo (new) mutations to protein coding and other regions of genomic and mitochondrial DNA. Some disorders are cancer predisposition syndromes, such as breast and ovarian cancer, multiple endocrine neoplasia, and familial adenomatous polyposes, or single gene disorders, such as cystic fibrosis, Marfan syndrome, and polycystic kidney disease. Other disorders are caused by chromosomal abnormalities in which whole segments of chromosome are lost, translocated, or do not replicate normally. Some of the chromosomal abnormalities are Down syndrome, Turner's, Fragile X, and Klinefelter syndrome, to name just a few.

This entry begins with a definition of the patient and the historical context of genetic research. Next, the entry provides an overview of the current approach to genetic research. The entry concludes with a discussion of policies that help protect families.

Definition of the Patient: Person or Family

The chronology of health care may begin with the patient and expand to the family or begin with the family and focus in on individuals. The definition of a patient will depend on the desired outcome of care as treatment or prevention of disease. Treatment of a genetic disorder will situate initial care with the affected individual while prevention will consider all individuals who are at risk. The focus of disease management must never be stationary but rather must shift and respond to emerging health needs. Through diagnosis of genetic disease one automatically gains information about the genetic status of some or many family members. This information regards at least the affected person's parents and possibly most relatives (Genetic, 2007). Moreover, because heritable diseases are, by nature, multigenerational, the boundaries of health care services need to be expanded. Genetic counseling for family planning is a main venue for expanding such boundaries. Future parents are advised on the probability of future generations being affected by a known heritable disease. In such a case the “patient” is yet unborn. When disease has genetic determinants, different language ...