Clinical Genetics

Since the establishment of the Genetics Clinic by Charles Epstein, MD in 1967, UCSF has been a leader in the training and practice of medical genetics. Today, IHG faculty together with dedicated genetic counselors, serve the UCSF patient population in myriad ways, including through the Division of Medical Genetics in the Department of Pediatrics and the Division of Genomic Medicine in the Department of Medicine. Our faculty play an active role in the education of our medical students, residents, and fellows, as well as pre-professional students and trainees in the Schools of Dentistry, Pharmacology, and Nursing.

Specialized Clinics

Cancer Risk Program
Cardiovascular Genetics Program
Center for Craniofacial Anomalies
Center for Reproductive Health
General Genetics Clinic
Genomic Medicine Initiative
Lysosomal Storage Disease Center
Memory & Aging Center
Neurometabolic Clinic
NF/RAS Pathway Clinic
Pediatric Medical Genetics
Prenatal Diagnostic Center

Below is the most recently published clinical story. See the Clinical Stories Archive for more stories written by patients and clinicians associated with IHG.

Finding Strength in the Genes of My Father

Martinez Family circa 1963

Martinez Family circa 1963

Selena MartinezBy Selena R. Martinez —

When I was twelve years old my father was diagnosed with advanced gastric cancer. He had surgery to remove his stomach, underwent chemotherapy and spent a lot of the next year in and out of the emergency room. I was aware of my father’s possible fate, as his brother had died from pancreatic cancer a year before. I felt helpless and even feared making my father more ill. But I never saw him cry or show signs of pain; I witnessed only his amazing will to live. Thankfully, my father survived, but this turned out to be only the beginning of my family’s struggle with cancer. It took many more cancer diagnoses and another decade to properly diagnose my family with the genetic disorder Lynch syndrome (LS). Cancer and LS have had a profound impact on my life, and our journey to a diagnosis inspired me to be an advocate for both my family and the LS community.

I was diagnosed with Lynch Syndrome five years ago at age 25 with the help of UCSF’s Gastrointestinal Cancer Prevention Program. Lynch syndrome is a cancer predisposition syndrome characterized by an increased lifetime risk for developing a host of cancers, namely colon cancer and endometrial (uterine) cancer, where the lifetime risk of developing these cancers is 75% and 71% respectively. Other cancers include stomach, pancreatic/biliary duct, urinary tract, small bowel, ovarian, brain (usually glioblastoma) and skin cancers. Moreover, cancers caused by LS can occur at a young age.

Martinez Brothers circa 1963

Martinez Brothers circa 1963

The reality of being at significantly increased risks for so many cancers at a relatively young age is an overwhelming prospect. Over a 20-year period, my family has received 16 cancer diagnoses. Relatives have been diagnosed as young as 32 and 35. Adding salt to the wound, several family members have been diagnosed with cancer multiple times. At the age of 72, my father is a five-time cancer survivor.

Unfortunately, there are no magic genetic pills one can take to cure LS. While some might face this diagnosis with fear and denial, I found strength in the knowledge conferred upon us by genetic testing. Knowing that we carry this gene mutation enables me and my family to follow an intensive screening regimen to detect cancers early. Early detection improves both treatment options and survival rates. I am regularly screened for six different cancers. There are also options for prophylactic surgery including colectomy, hysterectomy, and bilateral salpingo-oopherectomy, which I will consider in the future for further prevention and ease of mind. I am incredibly grateful to be in a position to protect myself against some of the cancers that have affected others in my family.

My family’s experience with cancer inspired me to launch my own advocacy efforts to promote Lynch syndrome awareness. At the time I was diagnosed there was a lack of awareness about Lynch syndrome among the medical community and no resources for patient support. I realized this was an opportunity to make a difference. I ran half marathons to honor each family member diagnosed with cancer. I collaborated on a website to educate the general public and to share my family’s story. I reached out to news outlets and health magazines to illustrate my family’s experiences with cancer and LS. Multiple articles published in English and Spanish propelled my family’s story into the public eye and put a human face on this syndrome.

Professional health and medical organizations such as UCSF Medical Center, Genetic Alliance, and Myriad Genetics took note and provided even greater advocacy opportunities. One of my most valued experiences has been sharing my family’s story with UCSF medical students. I am proud to influence new physicians on the importance of taking a family history, recognizing patterns, and referring patients to genetic counselors when necessary. Furthermore, my work as a patient advocate, or Lynch Pin, for Myriad Genetics has provided the opportunity to share my family’s story with physicians and reinforce the importance of genetically testing families with these cancers. I also participated in a Genetic Alliance video to educate physicians about LS and was featured in their educational outreach pamphlets. Each of these advocacy opportunities encourage me that one day all families like mine will receive the attention and care that they need and deserve.

Advocacy efforts are gaining momentum. Two non-profits have been established. The Lynch Syndrome Screening Network, composed of genetic counselors, promotes universal Lynch Syndrome screening on all newly diagnosed colorectal and endometrial cancers. The social media website KinTalk was developed by UCSF genetic counselors to encourage communication among affected families and to update families on the latest LS research. Lynch Syndrome Awareness Day coincidentally falls on my birthday (March 22) and I am honored that my efforts have led my hometown of Selma, CA and the city of San Francisco to recognize this special day.

It has been gratifying to be a part of this journey and to witness the advances in patient care and support. Despite these efforts, however, challenges remain for my family. Some family members encounter physicians who are uninformed or fail to manage care appropriately, while on the other hand, other family members fear doctors, lack insurance, or prefer not to be tested. Although this can be frustrating, I cannot forget all the progress that has been made for both my family and the LS community.

My father and I are living proof of the benefits that can come from receiving a Lynch syndrome diagnosis. I am no longer a fearful little girl, but an empowered young woman guided by my father’s resilience and determination. Over the next 20 years and beyond I anticipate a bright future for Lynch syndrome families through continued advocacy efforts and scientific advances, and I am committed to playing an active role in shaping that future.

For more information about Lynch Syndrome, please consult
Kintalk | Center for Disease Control and Prevention (CDC)


Selena Martinez is currently a genetic counseling assistant at the UCSF/SFGH Cancer Risk Program, which provides genetic counseling and testing services for the underserved and uninsured community at San Francisco General Hospital who are at risk for Hereditary Breast & Ovarian Cancer and Hereditary Colon Cancer Syndromes. She is also the New Patient and Research Coordinator in the Ehlers-Danlos Program headed by Dr. Robert Nussbaum.