Genetically Speaking Blog

Newborn screening is a group of screening tests performed shortly after a baby is born, typically while they are still in the hospital. It includes an evaluation of hearing, heart function and specific conditions detectable via blood. The goal of this type of testing is to look for critical conditions that, while not immediately noticeable, can impact the long-term health of a newborn. This allows for early detection, diagnosis and intervention to improve a child’s quality of life as well as reduce risk for disability or even death.

Ovarian cancer can be a silent killer. Most women are diagnosed with this cancer at later stages, as the symptoms are often silent or not recognized as indications of cancer in earlier stages in the midst of busy lives.  As a genetic counselor, I frequently meet with women diagnosed with ovarian cancer and their family members to discuss the odds that the disease could be inherited, and I address their concerns and questions about cancer risk.  Below are some of the common questions I hear that may be  relevant to you or someone you know.

If there’s ever been a year that pushes people to examine their mental health, 2020 would be it. Our world is facing some challenging times. Between living in a pandemic and the national conversation surrounding racism, violence and other injustices inflicted on members of the Black community, people are grappling with emotions that are hard to process while also dealing with the regular pressures of their daily lives.

COVID-19 has significantly impacted the lives of people all around the world. While the pandemic’s effect on hospitals and the frontline healthcare workers is palpable, other aspects of healthcare are also affected. Elective surgeries are cancelled, medical supplies are scarce and clinical care teams struggle to rapidly transition to telehealth services so they are easily accessible to patients. Meanwhile, patients are fearful of exposure yet still need essential healthcare services unrelated to the pandemic.

In these chaotic times, few understand the fear and confusion that expectant mothers are facing. Will they be able to safely deliver their children in hospitals? Can they make it to their appointments, or should they even be going to them? 

Genetic testing for ancestry is more accessible and affordable than ever, and every day it is helping people crack the code on their family histories. These ancestry tests originally gained popularity as people wanted to learn more about where they came from, who their relatives were and what cultures they were tied to. However, the field has now expanded, and some of these direct-to-consumer tests can review DNA and provide some basic information about a person’s health history.  Even if people aren’t searching for health information when they take a direct-to-consumer test, their genetic ancestry might reveal clues about their likelihood to inherit certain conditions. Such is the case for people of Eastern European descent who find out that they have Ashkenazi Jewish ancestry. This particular group of people has a history that is specifically linked with certain genetic diseases and conditions.