I am reminded of a line in the famous song “Amazing Grace.” I once was lost, but now am found, was blind, but now I see. My son, James, was born with a rare genetic disorder causing clouding to both of his eyes. By all accounts, he was blind. Today, James not only has vision, but he also, at 4 years old, attends school full time, recognizes pictures in books, and navigates environments comfortably. I directly attribute his success to the selfless service and expertise of Hannah Scanga.
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This episode discusses how genetic counselors play an active role in patient care and how they work with other healthcare providers. The episode also emphasizes how genetic counselors’ special training in genetics and counseling sets them apart from other healthcare providers.
Every day it seems there’s a new at-home DNA test on the market, and two of the biggest testing companies – Ancestry.com and 23andMe – have sold over 30 million tests combined. If you’re considering an at-home DNA test, you may have questions. Can you rely on these tests to give you accurate medical information? Are they something you can use in place of a test ordered at your doctor’s office? If so, what do the results mean?
Like many people, you may worry about developing Alzheimer’s disease. Alzheimer’s disease is the most common cause of dementia, a decline in mental ability over time that can interfere with quality of life. A combination of genetic, environmental and lifestyle factors play a role in a person’s risk to develop Alzheimer’s disease. There is a strong genetic link for Alzheimer’s disease, for example, in people who have features of the conditions earlier in life (before age 65), as well as later in life.
I’m a genetic counselor who works in a reproductive center. I sometimes see men who weren’t told that cancer treatments could significantly impact their chances of having children, and this isn’t only with the people I see. One study found that 50 percent of healthcare providers never introduce the topic, which is in contrast to 51 percent of the men saying they wanted to father a child in the future. In fact, 60 percent of the men said they didn’t know that cancer therapy could cause infertility.
As a genetic counselor who specializes in psychiatric illnesses and addictions, I frequently hear this question from the individuals and families I meet with: Is there a gene that's responsible for my condition? It's also a common question in online searches; depression, alcoholism and schizophrenia are among the top 10 topics that come up in Google searches that ask: “Is there a gene for. . .”
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Huntington's disease is an inherited brain disorder that is caused when specific cells in the brain die. Symptoms include mood and behavior disturbances , including depression, apathy, irritability, anxiety, and obsessions; cognitive decline , such as loss of memory and inability to focus, plan, recall or make decisions; and physical deterioration due to large involuntary movements, which cause loss of coordination and difficulty walking, talking, and swallowing.
As a genetic counselor specializing in ovarian cancer, I was heartened to learn about a recently approved chemotherapy treatment for women with a type of inherited ovarian cancer. In December, the US. Food and Drug Administration granted accelerated approval of Lynparza (also known as olaparib) for women whose ovarian cancer is caused by an inherited mutation in the BRCA1 or BRCA2 gene. Currently, this treatment is only for women whose cancer has failed to respond to three other types of chemotherapy.