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It's in the Genes

Research tells us that most genetic disorders are “multifactorial,” meaning they’re caused by a combination of inherited mutations in multiple genes, often acting together with environmental factors. (NIH)

Research tells us that most genetic disorders are “multifactorial,” meaning they’re caused by a combination of inherited mutations in multiple genes, often acting together with environmental factors. (NIH)

Then, as life-changing events are often portended, from out of the blue came a phone call. “It was my dad’s sister,” says Noleen, “to tell me if I was not finished having children, I should get to it. She went on to fill me in about how BRCA (a gene that, if mutated, significantly increases the risk of breast and/or other cancers) had shown up in our family.”

The aunt suggested that Marjorie’s dad be tested as a next step, but he chose against it, partly due to the cost involved. “I chose to pay the near-$500 to know if BRCA was a factor in my body,” says Marjorie. “I learned right before Easter weekend in 2012 that it, indeed, is. At 34, the results were frightening and overwhelming.”

Those test results would send Marjorie and her family on a yearlong odyssey that would prove to be emotional, exhausting, expensive, and empowering. Just how high was her risk of getting breast and/or other cancers, and what kinds of options did she have? Based on the specific information gleaned from her test results, Marjorie had many decisions to make. Toni Green-Cheatwood, DO and Medical Director of Breast Oncology with the Penrose Cancer Center, says, “Generally, about 5-10% of any cancers seem to be inherited. But we need to know what ‘inherited’ means when we talk about cancer. Currently, ‘inherited’ cancers are those for which we have genetic testing. The list of gene tests continues to grow for each type of cancer.”

Dr. Cheat-Greenwood says in the case of breast cancer, about 15 genes can be tested for inherited changes, but that number is likely to go up in the coming years. Breast cancer typically falls into three categories: sporadic - no other family members or very few with breast cancer; hereditary - a known inherited predisposition such as a BRCA1 or BRCA2 gene mutation (which can bump the risk to 70%); and familial - both hereditary and environmental factors contributing to cancer in the family.

“Everyone carries the BRCA1 and BRCA2 genes,” explains Cheat-Greenwood. “They protect us from getting certain cancers. The problem arises when there is a mutation in either gene.”

When Marjorie learned she had the BRCA mutation, she did what Dr. Cheat-Greenwood recommends–she underwent counseling. “I consulted a genetic counselor to understand my individual elevated cancer risk,” says Marjorie. “From there I chose doctors and surgeons to consult, both in Colorado Springs and Denver. I spoke with family members who were also BRCA positive and who were undergoing cancer treatment. With the information collected and the recommendations from trusted doctors, my husband and I decided to move forward with the Penrose Cancer Center and with surgery—knowingly subjecting me to a tough year to avoid an even tougher one that had a high likelihood of occurring.”

As we know, cancers aren’t the only diseases that can be inherited. Other genetic disorders include some types of heart disease, cystic fibrosis, sickle-cell anemia, fragile x syndrome, and Huntington’s. With recent advancements in scientific knowledge and technology, many of these diseases can be detected, diagnosed, and possibly treated very early in life, sometimes even before birth.

Gene LaMonica, MD, and Maternal-Fetal Medicine Specialist with the Memorial/UC Health System, says, “At Memorial, we deal with many different congenital anomalies that are not so infrequently caused by defects in the karyotype chromosomes. More commonly we deal with inherited genetic conditions like cystic fibrosis or sickle cell. We do a lot of genetic counseling, and we do some testing, but I would say our focus resides in the translation of genetics research into clinical applications.”

Jenna Cedar, Genetic Counselor with Maternal-Fetal Medicine at Memorial, says Memorial is not currently conducting fetal treatments for genetic conditions or birth defects in utero. “In Aurora, however, there is a joint effort between the University of Colorado Hospital and Children’s Hospital Colorado where in utero surgeries are taking place,” she says. Medical teams are performing laser ablations for Twin to Twin transfusion syndrome (not genetic) and in February were preparing to begin conducting surgery for correction of neural tube defects.

“Most genetic diseases have no in utero treatments,” says Cedar. “The same is true for isolated birth defects, although there are a few fetal surgery centers around the country that are developing fetal surgery methods to treat certain birth defects. For all its promise, in utero surgery has many associated risks; therefore not every pregnancy is a good candidate for fetal treatment.”

When a genetic diagnosis is made prenatally, says Cedar, the next step is genetic counseling. “This is often not a onetime discussion, as it can be difficult to process information following the shock of being given news that your baby will be different than you may have originally expected. If the diagnosis is a hereditary or potentially hereditary condition, carrier testing is or can be performed on the parent and other at-risk family members.”

Once a person or family learns of an inherited condition, whether it be in adulthood or even before a baby is born, both the Memorial and Penrose systems implement comprehensive support systems that can include the involvement of medical personnel, social workers, family therapists, support groups, and contact with others who are living with similar diagnoses.

“My surgeons and their respective teams went above and beyond in educating me on my choices,” says Marjorie Noleen, “as well as the huge cost burden that is directly tied to taking action from a medical perspective. Without their support, I might not have won the battle that ensued for coverage of my treatments, deemed medically necessary by industry standards.”

After undergoing bilateral mastectomy and a complete hysterectomy, Marjorie is just now at the tail end of her breast reconstruction process. Looking back on the past year, one might wonder if she would say she’s happy with the decisions she has made.

“Yes,” she says simply. “I took care of business. It hurt. It was scary. And, it still is. The BRCA gene is linked to multiple cancers, and not all have preventative action items. I took care of two of the four related to my particular variation. The other two, pancreatic and melanoma, will remain on my radar indefinitely.”