It’s in the genes

Sherlock Holmes-style sleuthing is a significant part of Maureen Bocian’s work as a medical geneticist at UCI Medical Center. In her clinical practice, which encompasses everything from prenatal testing to treating Alzheimer’s disease, she faces the challenge of diagnosing genetic disorders so rare that they have never been described in medical books.

No wonder she is so intrigued by the manual on genetic disorders in which Dr. Jon M. Aase starts each chapter with a quotation from one of Sir Arthur Conan Doyle’s Sherlock Holmes books. Among Bocian’s favorites is this classic Holmes comment fromThe Boscombe Valley Mystery: “You know my method. It is founded upon the observance of trifles.”

Bocian pays attention to trifles in order to solve medical mysteries. “A diagnosis may depend on a clue that we find in some small part of the body,” she explains. “We look at details like fingerprints, sweat pores, body proportions. One tiny mark on the ear can make a difference in a diagnosis.”

Through her practice in the Division of Human Genetics and Birth Defects, Bocian also treats patients with more common conditions that have genetic links, including many birth defects, autism and mental retardation.

Bocian, who earned her medical degree from the University of Illinois College of Medicine, came to UCI in 1979 after completing a residency in pediatrics at Children’s Memorial Hospital at Northwestern University in Chicago and a fellowship in medical genetics at Harbor-UCLA Medical Center. The professor of clinical pediatrics is a diplomate of the American Board of Medical Genetics and of the American Board of Pediatrics and a fellow of the American College of Medical Genetics and the American Academy of Pediatrics.

Bocian stresses that her work is about treating people, not conditions. She spends a significant amount of time in patient consultations, developing family histories, conducting thorough physical exams, performing diagnostic tests, discussing the implications of her findings with patients and recommending a course of treatment.

A diagnosis or information about the risk of developing a genetic disorder can have a powerful emotional impact on the patient as well as other family members. For example, a patient may be faced with an agonizing decision about whether to stop a pregnancy or to have children in the future. Bocian works closely with genetic counselors to help patients make these difficult choices.

“We give people all the information we can without placing our own values on their decision-making process,” she says. “A diagnosis may have lifelong implications, so it’s important to take the time to be as clear and compassionate as you can be.”

When a child is diagnosed with a genetic disorder, parents often blame themselves. “They are so relieved to hear that it isn’t their fault,” says Bocian, who specializes in pediatrics as well as genetics.

Her clinical work is crucial to research that focuses on the causes of genetic disorders and how they can be more effectively diagnosed and treated.

For example, a research team at the School of Medicine has made significant strides toward understanding the genetic underpinnings of autism. Bocian’s role is to help identify patients who are qualified to participate in the research and make sure that all those in the team’s study have been accurately diagnosed.

“The clinical diagnosis is critical to research, because if you don’t have a clearly defined patient population, your results will be improperly interpreted,” she explains.

As studies are completed, Bocian is able to bring the latest knowledge to the patients who need it most and to help them understand the pros and cons of new diagnostic and treatment methods. This is one of the many advantages of doing her work at a leading research institution. Another is being able to discuss problems and solutions with colleagues who have expertise in a wide range of areas related to genetics, which enables her to “bring everything possible to bear on a problem.”

Maureen Bocian admits to frustration when her search for information fails to produce answers. But her field is advancing so rapidly that she can reassure patients who can’t be helped immediately that new information on genetic disorders is becoming available every day.

Bocian never gives up on her efforts to find the elusive answers. She loves the excitement of uncovering a clue that brings her one step closer to solving a puzzle and helping a patient.

“Like Sherlock Holmes, I thrive on the joy of the hunt,” she says.