Hi Reddit! We're experts with the National Society of Genetic Counselors
and are here to answer your questions about the sometimes-complicated
world of personal genetics.
Abstract
We’re genetic counseling experts with the National Society of Genetic
Counselors. Genetic counselors receive special training in two areas:
genetics and counseling. We use our advanced training to guide and
support patients seeking more information about how inherited diseases
and conditions might affect them or their families, and to interpret
genetic test results. The genetic counseling process integrates:
Interpretation of family and medical histories to assess the chance of
disease occurrence or recurrence. Education about inheritance, testing,
management, prevention, resources and research. Counseling to promote
informed choices and adaptation to the risk or condition. Helping
patients and families prepare for or navigate at-home genetic test
results. NSGC serves as an integral resource for patients, prospective
students and healthcare providers interested in learning more about
genetic counseling. We’re doing this AMA as part of the National Human
Genome Research Institute’s National DNA Day Reddit AMA series! Ask us
anything! Here’s a bit about those of us answering your questions today:
Erica Ramos, MS, CGC: I am NSGC’s President and Personalized Medicine
Expert. I can discuss next-generation DNA sequencing technologies such
as whole genome and whole exome sequencing, and how these technologies
are impacting healthcare and benefiting patients. Amy Sturm, MS, CGC,
LGC: I am president-elect of NSGC and NSGC’s Cardiovascular Expert. I
have more than 14 years of experience helping patients with a higher
risk of genetic heart disease understand their familial risk and genetic
testing results. I am a nationally recognized expert on familial
hypercholesterolemia and can also discuss other hereditary forms of
heart disease, including cardiomyopathies, arrhythmias, familial
aneurysms and others. Joy Larsen Haidle, MS, CGC: I am a past president
of NSGC and an NSGC Cancer Expert. I can discuss hereditary cancer
syndromes such as Lynch syndrome and hereditary breast cancer. I am an
active public policy advocate for genetic testing. Jason Flanagan, MS,
CGC: I am NSGC’s Reproductive Health Expert. I can discuss preconception
and prenatal genetics, such as how genetics affect infertility and
miscarriage, as well as the process and ethics surrounding
preimplantation genetic screening. Ana Morales, MS, LGC: I am NSGC’s
Cardiovascular Genetics and Spanish-Language Expert. I specialize in
genetics and heart conditions and I’m a nationally recognized expert on
cardiomyopathy, a common condition in which the heart muscle’s ability
to pump blood is diminished. I can also discuss how I’ve worked to
expand access to genetic information in the Spanish-speaking community.
Brianne Kirkpatrick, MS, LCGC: I am NSGC’s Ancestry Expert. I can
discuss the use of genealogy and DNA testing for exploring family
connections and genetic health risks. I can also discuss limitations and
benefits of the popular at-home genetic tests. Blair Stevens, MS, CGC: I
am NSGC’s Prenatal Expert. I have 10 years of experience counseling
patients and their families about their risks to have a baby with a
genetic condition as well as testing options for conditions such as Down
syndrome, cystic fibrosis, sickle cell anemia and spina bifida. I have a
passion for helping families who carry a pregnancy diagnosed with a
genetic condition or developmental difference. Trish Brown, MS, LCGC: I
am NSGC’s Policy and Nutrition Expert. I have more than 20 years of
experience in clinical genetics and can discuss DNA testing for
nutrition and fitness, at-home genetic tests, the study of
pharmacogenetics, and policy issues. If you would like more information
about genetic counselors and the role we can play in your healthcare,
visit our website: aboutgeneticcounselors.com. Updated: Thank you all
for participating in today’s AMA! We’ve enjoyed answering your
questions. You can find more easy-to-understand genetics information on
our website AboutGeneticCounselors.com. If you’re interested in genetics
and infertility and have more questions on the topic, tune into a free
webinar tonight at 7 p.m. CT. Sign up and see future webinar topics
here: https://goo.gl/ZDFTrM Thank you, Reddit!