2008 Woodie Awards
Get the backstory on genetic diseases
Heather Byers - The Daily Iowan
Issue date: 11/28/07 Section: Opinions
- Page 1 of 2 next >
When I was growing up, my grandmother took a genealogy course and traced some of our family history. She found some interesting branches - such as Davy Crockett and an English royal, to name a few. And while being a descendent of a man who could fight a bear empty-handed makes for more intriguing cocktail chatter than a history of a genetic disorder, I'd much rather have a family medical history. It's much more important in the long run.
All of us inherit half of our genetic profile from our mother and half from our father. Each parents passes on her or his own genetic profile - meaning that there is a 50 percent chance that a gene will be passed on to the child. Until every gene is known and the human genome can be inexpensively sequenced and easily interpreted, family history remains the gold standard for predicting inherited diseases. Family history is a valuable diagnostic tool. It can show which medical tests to pursue and aid in making decisions about one's lifestyle, family planning, and future.
However, not all of us can call up our parents or grandparents and ask about their family history. Some of us may no longer have living parents or grandparents; some of us may have been adopted; some of us may have families that are extremely private about disease and health care and unwilling to share their medical history. Even if particular diseases in the family aren't known, a basic idea of where one's relatives came from can also be useful. Many genetic diseases are linked to populations from particular geographical locations or ethnic groups. For example, thalassemias are more likely to appear in people of Mediterranean origin, sickle-cell anemia in those of African descent, and Tay-Sachs disease in the Ashkenazi Jewish population.
The genetic component of some diseases, such as breast cancer, has been well-catalogued and publicized in the media. Familial breast cancer can be caused by either the BRCA1 or BRCA2 gene. The BRCA genes are autosomal dominant - meaning that if one inherits the gene, it will be expressed. Having one of the BRCA genes increases the lifetime odds a woman will get breast cancer from 12 percent to 70 percent. Knowing one possesses the gene presents the opportunity to prevent this cancer or at least to catch it in its early stages. Knowing if one's mother, aunts, grandmothers, or great-grandmothers have had breast cancer would be extremely valuable information in helping one decide whether to have the genetic test that would look for the presence of a BRCA gene.
All of us inherit half of our genetic profile from our mother and half from our father. Each parents passes on her or his own genetic profile - meaning that there is a 50 percent chance that a gene will be passed on to the child. Until every gene is known and the human genome can be inexpensively sequenced and easily interpreted, family history remains the gold standard for predicting inherited diseases. Family history is a valuable diagnostic tool. It can show which medical tests to pursue and aid in making decisions about one's lifestyle, family planning, and future.
However, not all of us can call up our parents or grandparents and ask about their family history. Some of us may no longer have living parents or grandparents; some of us may have been adopted; some of us may have families that are extremely private about disease and health care and unwilling to share their medical history. Even if particular diseases in the family aren't known, a basic idea of where one's relatives came from can also be useful. Many genetic diseases are linked to populations from particular geographical locations or ethnic groups. For example, thalassemias are more likely to appear in people of Mediterranean origin, sickle-cell anemia in those of African descent, and Tay-Sachs disease in the Ashkenazi Jewish population.
The genetic component of some diseases, such as breast cancer, has been well-catalogued and publicized in the media. Familial breast cancer can be caused by either the BRCA1 or BRCA2 gene. The BRCA genes are autosomal dominant - meaning that if one inherits the gene, it will be expressed. Having one of the BRCA genes increases the lifetime odds a woman will get breast cancer from 12 percent to 70 percent. Knowing one possesses the gene presents the opportunity to prevent this cancer or at least to catch it in its early stages. Knowing if one's mother, aunts, grandmothers, or great-grandmothers have had breast cancer would be extremely valuable information in helping one decide whether to have the genetic test that would look for the presence of a BRCA gene.
Be the first to comment on this story