Genetic testing is used during pregnancy and with newborns to identify potential developmental disorders. Genetic counselors guide families through the process, helping them understand how genetics impact their babies’ health. Read about how these genetic counselors helped their patients find answers.
For Brooke Johns, discovering that her unborn daughter had several fetal abnormalities was truly heartbreaking. Anna Victorine, a genetic counselor with Provenance Healthcare, was there to comfort Brooke and her family with information and proactivity during a very difficult situation. As Brooke writes in her essay for the Genome magazine’s Code Talker Award, “The level of professionalism, compassion, empathy, and understanding that I experienced with Anna was so great that our angel baby, whom we never had the privilege of meeting, also bears her name.”
It is estimated that 1 in 23 people will be diagnosed with colon cancer in their lifetime. Lynch syndrome affects approximately 1 in 400 people and is the underlying cause of about 5% of all cases of colorectal cancer.
For Selena Martinez, watching multiple members of her family be diagnosed with cancer influenced her to seek genetic counseling and take control of her health. Selena worked with Amie Blanco, a genetic counselor at UCSF, who worked diligently to diagnose Selena’s family with Lynch syndrome. As Selena writes in her essay for the Genome magazine’s Code Talker Award, “Amie’s efforts to diagnose my family inspired me to become an advocate for Lynch syndrome, my life’s calling.”Read selena's story
For the millions of people experiencing a rare disease, life can be filled with questions. Genetic testing can help find answers.
Identifying a rare disease often sparks a “diagnostic odyssey” that can stretch over many years. Genetic testing can help dramatically shorten that search for answers, connecting patients more quickly to the care they need.
For Liz Brown, being adopted meant that she always had questions about her health history. Diagnoses for both Liz and her daughter provided an answer to a lifelong question and gave Liz control of her family’s health and future. Genetic testing, she says, "gives you so many options to be proactive with your life instead of feeling like you have to be reactive when you get sick."