With ongoing advances in genetic screening and discoveries in hereditary links to diseases and abnormalities ranging from cancer to birth defects, the number of people being referred to Providence Genetics Clinic is on the rise.

The clinic's services include adult, pediatric, and prenatal genetics, cancer risk assessments, and genetic counseling.

"Testing is available to help with hundreds of diagnoses," says Dr. Judith Martin, the clinic's medical director.

The clinic, operated by Providence Sacred Heart Medical Center & Children's Hospital, occupies about 2,700 square feet of space on the fourth floor of the east tower in the Sacred Heart Doctors Building, at 105 W. Eighth.

The clinic formerly was the Inland Northwest Genetics Clinic, a nonprofit, freestanding clinic supported by Sacred Heart and Deaconess Medical Center for more than 30 years. It was located at 2607 S. Southeast Blvd. prior to moving into the Doctors Building last spring, under the auspices of Sacred Heart, which employs four people at the clinic including Martin, two counselors, and an office employee.

Patients who come to the clinic generally fall into one of three main groups, Martin says.

One group seeks prenatal counseling and testing. It consists of pregnant women who are worried about birth defects, Martin says. They often have had a preliminary test that indicates a potential hereditary abnormality, a family history of birth defects, or they are otherwise at increased risk of having a child with birth defects, she says.

A second group has family backgrounds of inherited conditions. Women with family histories of breast and ovarian cancers make up a large portion of that group, Martin says.

The other group consists of families with children who have birth defects, learning disabilities, or unusual features. The clinic tries to help families determine whether the underlying cause is chromosomal abnormalities.

Martin says she sees about six patients a day, although that varies seasonally, with winter being the slowest time of the year. Patients usually are referred to the clinic by their primary care providers, obstetricians, or surgeons, she says, adding that patients occasionally seek the clinic directly.

Counselors help determine if testing would be helpful to patients and their families by confirming a diagnosis or detecting a predisposition to a health condition.

"If testing isn't going to be beneficial, we need to help them understand why," she says. "There might not be enough compelling information to order a test, or they might not have the right family member to test, or the results might not make a difference."

Currently, the largest group coming in for genetic counseling and testing is families with children with learning disabilities, behavioral issues, and other physical problems. Total numbers also are increasing, though, among the clinic's other main patient groups, Martin says.

Patient and primary-physician awareness of genetic cancer risks are increasing. The clinic also is handling referrals from Sacred Heart's new perinatologist, Dr. Douglas Barber, who is trained in a subspecialty of obstetrics that focuses on the diagnosis and treatment of disorders of the mother and fetus.

In the cancer-risk group, gene mutations called breast cancer gene 1 and breast cancer gene 2 (BRCA1 and BRCA2) are the most common inherited mutations linked to a significantly increased risk for breast cancer and ovarian cancer compared with the overall population.

Women who have inherited either of the BRCA mutations might opt for preventive surgeries, including mastectomies and ovary removal, Martin says, or they might choose alternatives to surgery, such as increased surveillance and medications that reduce the risk of breast cancer.

Men also can inherit and pass on the BRCA1 and BRCA2 gene mutations. Although men with the mutation have a lower risk to develop breast cancer than women, they are at a higher risk than men without the mutation, Martin says. The BRCA genes also are linked to higher risks of pancreas, prostate, and colorectal cancers.

In cases of prenatal testing, pregnant women who come to the clinic want to confirm what other tests, such as ultrasound imaging, have indicated, or whether the mother or the child faces increased risks, Martin says.

"If parents wish to proceed with testing of a fetus, the clinic helps them prepare for the results," she says. "They might want to deliver at a hospital with a neonatal intensive-care unit, where surgeons and staff are prepared to provide specialized care for the infant."

The clinic also helps to connect parents with support services, such as Providence's Sunflower Program, which helps families prepare for a child who might not live or might have disabling birth defects, she says.

"Providence discusses patient options and helps them make decisions for what's best for them and their families," she says.

Providence Genetics Clinics works with a number of labs. Spokane-based Pathology Associates Medical Laboratories, a Providence affiliate, conducts chromosome and microarray analyses, and Sacred Heart has its own molecular lab.

Some tests, however, are proprietary; lab work for the BRCA gene tests are conducted at only one lab that holds the patent on the test.

A technique called chromosomal microarray analysis identifies whether there are genetic mismatches in certain areas of DNA. Molecular genetic testing analyzes DNA to detect hereditary or acquired disease-related genetic mutations or characteristics.

"I think of them like a cookbook," Martin says. "Microarray looks to see if pages of the book are missing, and molecular testing detects whether there are mistakes in recipes."

A lot of microarray analysis is done on children with learning disabilities and behavioral issues.

"You can compare the results with results of similar children with chromosomal deletions or duplications to indicate what health conditions or behaviors families might expect of their child.

Some cases of autism, a developmental disability that affects brain functions in the areas of social interaction and communication skills, for example, are genetically linked and can be identified through microarray analysis, she says.

While such knowledge might not affect treatment or counseling for a child and family, it can provide parents with answers.

"Microarray gives answers to families who want to know what caused it and who want to connect with other families," she says. "Without a diagnosis, families feel lost."

Some genetic conditions, such as some forms of achondroplasia, a dwarfing condition, wouldn't be detected through microarray analysis, she says. In such a case, the clinic might recommend a specific molecular test to determine whether the condition is hereditary.

Overall, genetic tests range in cost from hundreds to thousands of dollars for a single test.

Huntington's disease, an adult-onset neurodegenerative disorder, is caused by one gene mutation, and the cost for that test is $200 to $300.

The BRCA test costs about $3,000, though insurance policies usually cover some or all of that expense.

Some inherited conditions, though, are associated with any of a number of gene mutations. Familial dilated cardiomyopathy, a heart defect that causes progressive enlargement and weakening of the left ventricle, is linked to abnormalities in more than two dozen genes, Martin says. Testing for all of them could cost $10,000, depending on the lab, she says.

One of the advantages for some tests, such as for familial dilated cardiomyopathy, is that they can identify whether the patient has the disease before becoming symptomatic, or is predisposed to it, so the patient can initiate intervention actions.

In some cases, genetic testing can rule out that patient has a particular condition, which eliminates the need for the patient to undergo further monitoring and screening for it, she says.

Some insurance companies don't cover tests that they consider to be experimental or for which the results wouldn't change the course of treatment, Martin says. Also, in some cases, insurance providers require counseling prior to testing, she says.