Every month, medical journals seem to be identifying new genetic diseases. One of medicine's most rapidly evolving fields, genetics is the study of heredity or how the characteristics of living things are transmitted from one generation to the next.

A genetic disease or disorder can stem from any abnormality - minor or major - in the individual's genome. While each of us carries between five to ten abnormal genes, the defective gene, if recessive, will remain unexpressed as long as the same gene received from the other parent is normal.

Statistics indicate that approximately three to five percent of babies are born with some kind of birth defect, including single gene disorders and chromosomal abnormalities.

Genetic disorders: Where do they stem from?

"There are literally thousands of genetic conditions and disorders out there," says Dr. Dean G. Huffman, perinatologist with Cape Perinatology Services at St Francis Medical Center in Cape Girardeau, MO. "But few that we deal with in obstetrics seem recurrent."

Huffman is board certified in obstetrics and gynecology and maternal-fetal medicine. Offering specialized medical care in high-risk pregnancies, maternal and fetal testing, and fetal therapy, he comes with nearly 30 years of professional experience in the field, and works at the only full-time perinatology clinic between Memphis and St. Louis.

"Some of the conditions have Mendelian inheritance," explains Huffman. "Some are multifactorial. A number of different genes and environmental factors contribute to it."

Mendelian inheritance refers in short to the manner in which single genes and traits are passed from parents to children. Examples include Achondroplastic dwarfism, sickle cell disease and muscular dystrophy.

Multi-factorial genetic conditions include birth defects like spina bifida and cleft lip and palate and common diseases such as diabetes, mental illness and hypertension. The combination of genes and environment will determine, for example, whether a baby exposed to seizure medicine during pregnancy will have birth defects.

Common reasons for referral for a pediatric genetics evaluation include Down syndrome, autism, neurofibromatosis, cystic fibrosis, developmental delays, failure to thrive, unusual physical features, growth problems, vision problems, cardiac and other birth defects, to name just a few.

Genetic counseling: The process

"Most of the time, patients are referred for a medical evaluation," says Certified Genetic Counselor (CGC) Kathy Morris, MSSW.

An assistant professor of pediatrics at St. Louis University, Morris visits the Jackson County Health Department, in Murphysboro, IL, once a month along with a geneticist to see patients requiring genetic testing and counseling services.

Children are referred to the clinic because something about their health, appearance or development suggests that they may have a genetic problem. The goal is to make a diagnosis, so that parents can be told what they can expect in the future and how best to help their kids.

"We go over their personal and family history: physical health and development information, and extended family health history," says Morris. A physical examination is then undertaken by a medical geneticist and some genetic tests may be ordered depending upon the individual case.

"Since it's logistically easier to send patients to the hospital of their choice, to get their prescribed genetic test done, that's usually what happens," says Morris. The hospital then sends the tests to a lab specializing in the particular genetic test and the results are sent back to the geneticist.

"We then call people with the results, explain what they mean and do follow up," says Morris.

This typically involves meeting with the family, explaining the condition in detail, making medical recommendations for the future, and handing them a concrete letter which details what they can expect given the diagnosis, the implications for other family members, treatment options (if there is a cure or no cure), and referral to support organizations.

"Sometimes the patient could benefit from pre-conceptual counseling to help her make decisions about whether or not to have children," says Marilyn Twitty, RN, BSN, genetics program coordinator, Jackson County Health Department, Murphysboro, IL.

"Or they may need help in planning a pregnancy if the lady is 35 years of age or above. Sometimes patients come in with a child who has already been diagnosed with some genetic disorder and want to have another child."

If a person is susceptible to a genetic disorder she may be offered a variety of tests to determine if her children are at high risk. Patients typically get referred by family practice doctors who think the patient could benefit from a genetic evaluation, pediatricians, school nurses, Child and Family Connections, Division of Services to Crippled Children, or they could be self referred if they know something is wrong.

Prenatal counseling

Prenatal genetic counseling is usually requested by a health professional like an OB/GYN or family doctor, because of the concern for a birth defect or genetic disorder in the unborn baby.

A genetic counselor then does a risk assessment and puts the pieces of the puzzle together, answering the classic question: 'How big are the chances of my baby having a genetic disorder or birth defect?'

"A large part of the prenatal population is made up of women with an abnormal blood test, which suggests the possibility of something like Down syndrome or spina bifida," says Morris.

In Down syndrome, extra genetic material causes delays in a child's development and it is almost always associated with some degree of mental retardation. Spina bifida is a permanently disabling birth defect that involves the incomplete development of the spinal cord or its coverings.

"For example, if a mother is a carrier of Duchenne muscular dystrophy, then we could explain that each male pregnancy she had will have a 50 percent risk of having the condition, whereas each female child she gave birth to would have a 50 percent chance of being a carrier," says Huffman.

Characterized by rapid progression and muscle degeneration, survival is rare beyond the early 30's for those with Duchenne muscular dystrophy.

The risk assessment would be followed by prenatal tests like an ultrasound or amniocentesis to determine the sex of the baby. "If it's a girl, nothing needs to be done," says Huffman. If the fetus is male, molecular genetic tests can be done to determine if he will have the condition or not, says Huffman.

Though he is not a certified genetic counselor, Huffman says he does discuss relevant genetic issues with the patient, since genetics is a significant part of the training that goes into being a perinatologist.

Dealing with grief

The genetic counselor is usually not the first person to bring up a concern. Most parents or parents to-be walk into the genetic counselor's office knowing there might be a chance of their baby having a genetic condition.

"Much of the time the chance of a problem is low," says Morris. "So the predominant emotion is one of overwhelming relief."

But sometimes the genetic testing and risk analysis reveals birth defects, kidney abnormalities, heart defects and other genetic conditions. In those cases, the parents go through the entire gamut of emotions as they grapple with reality and cope with their grief and anxiety.

According to Morris, common questions a parent or parent-to-be asks a genetic counselor include: What's causing this? Is it life threatening? Did we do something wrong? Can we fix this? Is it likely to happen again with my next pregnancy?

Since a lot of genetic disorders are rare, counselors emphasize that parents are not alone, give them all the necessary information, and then put them in touch with support organizations.

"It can be very hard for families, especially if a diagnosis has been made prior to birth that the baby will not survive," says Morris. "Then the parents go through the grief and loss process even before the baby is born. We try to stay attuned to the impact it has on families."

Technology to the rescue

Modern day medical technology offers different solutions for parents who have a high risk of passing on a genetic disease to their child. If a woman is a carrier of a genetic disease, a donor egg can be used for in vitro fertilization, and embryos will then be implanted in her uterus.

Other options include pre-implantation genetic testing, which involves screening for genetic flaws among embryos created by in vitro fertilization. "The genetic testing is done on a cell that is taken out," says Huffman. "If the cell is normal, fertility specialists will implant the embryo into the mother's uterus."

Thus assisted reproductive therapy, such as in-vitro fertilization, offers carrier couples who don't want to risk giving birth to a child with a fatal genetic disease, the chance to have healthy babies.

Genetic testing and abortions: Exploding the myth

Genetic testing and counseling can sometimes provide answers and point you in the direction you need to take to help ameliorate a problem.

"People just don't realize the gravity of it," says Dr. Pradeep Reddy, pediatrician at Heartland Regional Memorial Hospital, in Marion, IL. "Many of my patients, especially those with Down syndrome babies, decline genetic testing saying if God intends for it to happen, let it happen. But the key thing is getting the resources in place and getting all the help you can for your baby."

"Often parents-to-be decline genetic testing thinking they are invincible or that we will ask them to abort," says Reddy. "Both reasons are wrong and I cannot stress that enough."

Genetic testing has nothing to do with abortion, although the parent does have the option of legally terminating the pregnancy, if a fatal or incurable condition is discovered during prenatal genetic testing.

"We do tell them it's available," says Huffman. "But we don't encourage or coerce them in any way to follow that path. We are morally responsible to tell them what their rights and options are. But it's really up to them to make a decision."

Genetic testing and counseling answers important questions. For example, if you have a certain genetic disorder, what are the odds of your baby inheriting it? "When you know the odds you may change your mind about having the baby or be better prepared in terms of getting support systems in place," says Reddy.

For example, can the mother go to work once the baby is born or will s/he need round-the-clock care? What kind of issues will the parents be dealing with? What are the specialty services the baby will need?

"Long term outcomes are affected if the baby is not given the best possible care at birth itself," says Reddy. "If the baby has all the community resources and services available right from birth, s/he will have a better outcome than otherwise."

Hence knowing about a fatal or high risk condition in advance helps in the medical management and delivery of care; whether it be setting up specialty services or finding tailor made resources to fit the child's needs.

Depending on the birth defect, decisions on how to deliver the baby are made. Morris gives the example of gastroschisis - a birth defect where some of the baby's internal organs are outside the body. If identified before birth by ultrasound (which is usually the case), the parents realize immediately that the baby will require special medical care at birth. "So they will choose to deliver at a hospital which has a special level 3 intensive care unit with a pediatric specialist in attendance," she says.

Without the benefit of knowing in advance, the parent may have delivered the baby at a small hospital with no such facilities. "They would have then run the risk of exposing their baby to infection as they scrambled to get him or her to a bigger hospital with the required facilities," says Morris.

However, most women who have prenatal genetic counseling and testing get normal test results, says Morris. Prenatal testing and counseling can also help reassure those who are especially worried that their baby is fine.

An Infant with a Devastating Genetic Disease - The Story of Baby Elise

When Elise Rochman was born on December 1st, 2004, she seemed perfectly healthy. All was well with the world or so it seemed.

Her parents started to get concerned when she was around seven months old, for baby Elise wasn't meeting any of her developmental milestones. She hadn't learned how to sit up as yet. She couldn't focus and make eye contact either.

"On hindsight I think she plateaued around six months of age," says her father, Tim Rochman. "People told us there was nothing to worry about, so we had hope."

One day Kerri Rochman, Elise's mother, did some research online and when she typed in the symptoms, Tay Sach's Disease (TSD) popped up right away.

"My wife started crying," recalls Tim. "It was so devastating to read about it. But our reading told us it was common in descendants of Central and Eastern-European Ashkenazi Jews and was pretty rare in those who are not. Though it was a red flag, we felt we had nothing to worry about since we were non-Jewish."

Around six-seven months of age babies start to crawl. Elise didn't. "You always hear stories about babies developing late but are fine later on," says Tim. "Our baby was just so beautiful and didn't look like she had Tay Sachs or any other disorder. Later on we thought it could be cerebral palsy. Even that seemed so distressing at the time."

When Elise was nine months old, the Rochmans took her for a hearing and vision test. They discovered that her brain wasn't responding to sound. Their eye doctor was a regular doctor; not a pediatric ophthalmologist. He told the Rochmans that he couldn't see any cherry red spots in the back of Elise's eyes. Cherry red spots are usually a dead giveaway for TSD.

"It's just so rare that most doctors haven't seen it," says Tim. "So we were relieved thinking, whatever it is we can deal with it, as long as it's not Tay Sach's."

Visiting a pediatric neurologist who did an MRI on Elise, the Rochmans heard that it could be a slight form of cerebral palsy. But when they went home, a voice message awaited them, making their worst fears a reality.

"It was from the ophthalmologist," says Tim. "He said he did see the cherry red spots in Elise's eyes, but because he hadn't seen them before he had to check with his peers before he could confirm it."

The Rochmans world came crashing down. It was a very emotional and painful time for them. To think their child was dying of a fatal, genetic disorder of the central nervous system, for which there was no cure and the prognosis, was death by age four or five, even with the best of care, seemed too much to bear.

Once the neurologist was informed about the cherry-red spots, tests that measured beta-hexosaminidase A activity were ordered.

"We kept praying it wasn't true," says Tim. But the results showed that both Tim and Kerri Rochman carried the mutated gene, which in turn affected their child. Tim's mutation is one commonly found in Eastern European Jews, even though he considers himself a mix of German and Polish ancestry. Kerri's was a mutation that had never been documented. "Over time there is so much mixing of people, that it's hard to say what your real ancestry is," says Tim.

Elise was officially diagnosed with TSD when she was 11 months old. "We were planning the world for her," says Tim. "Now someone was telling us she wouldn't live to be four."

A week after her diagnosis Elise had a seizure that lasted a half hour. "We went to the emergency room and were there for a few days," says Tim. Enrolling her in a clinical trial in Washington DC in the hope of finding a cure for the disease, the Rochmans decided to take her out of the trial after five months, when her symptoms only seemed to get worse.

Moving from California to O'Fallon, IL, in February 2006, in order to be nearer to family and close to the St. Louis Children's Hospital, Tim says his baby is now a part of WINGS - the pediatric hospice program at the hospital.

Having seen the route most parents trod when they have babies with Tay Sach's, Tim says he doesn't want to keep her alive with machines, when her mind finally goes.

"It's a hard thing to think of as a parent," says Tim. "Her ability to swallow will end pretty soon. I can't tell you what we're going to do. I understand why parents choose to go through with all the machines and suction tubes, even if their kids are in a vegetative state and know it will be hard for us to say no to it when the time comes."

"Even now, it's so easy to forget that Elise has Tay Sach's, when she has a few good weeks" says Tim. But then something always happens to sober them up and remind them once again that they have no control over the onslaught of the deadly disease.

This February, Elise lost her ability to laugh. More recently she lost her ability to roll over. "It's a hard thing to watch your baby go through this," says Tim. "We're holding on to her ability to eat. She's a little more sleepy these days. After her meals, she's having a harder time swallowing and clearing her secretions."

Today Elise is 22 months old. She has low muscle tone and is pretty limp due to the disease. "Tay Sach's is stripping her of every ability to live - until she can no longer," says Tim. "Her body is willing but unable. It's going to get worse from now on and its just so devastating."

Although there is no cure or effective treatment for TSD, carrier testing has been available since the 1970's to determine if a person is a carrier of the disease. Both parents must be carriers in order to have an affected child.

Carrier testing includes a simple blood test that measures the amount of hex A enzyme in your blood. A blood sample can also be used to perform DNA-based genetic testing. Prenatal tests like amniocentesis and chorionic villus sampling (CVS) are also available and can help in diagnosing Tay-Sachs before birth.

According to the National Human Genome Research Institute, approximately one in every 27 Jews in the United States is a carrier of the TSD gene. Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana also have a higher incidence of Tay-Sachs. For the general population, about one in 250 people are carriers.

Currently organizations like the March of the Dimes are involved in aggressively finding a cure or alleviation of the symptoms of certain genetic diseases, including TSD.

"The thing to focus on is awareness, screening and prevention," says Tim. "What we need is a comprehensive prenatal genetic screening that would red flag anything like a recessive gene that you can pass on to your child."

Genetic counseling in Southern Illinois

"Our family case management nurses use a genetic screening questionnaire and if patients have a risk factor, they are then referred to the Jackson County Health Department, for genetic testing and counseling services," says Kim Spruell, RN, supervisor of the WIC (Women, Infants and Children) and Maternal Child Health, Franklin-Williamson Bi-County Health Department, Marion, IL.

An average of 20 to 30 pregnant and post partum women walk into the WIC every month, to avail of the program, and to get a medical card. Spruell says they all are asked questions to screen for genetic risks, domestic violence, depression, and a whole list of other problems.

"The number requiring a genetic counselor varies every month," admits Spruell. "Some months we may refer one patient. Other months we may refer as many as five patients. It really varies."

Marilyn Twitty, RN, BSN is the genetics program coordinator at Jackson County Health Department (JCHD), in Murphysboro, IL. She schedules appointments for clients needing genetic counseling, helps families gather all their family history, and obtains the relevant medical records (example: abnormal screenings) that have already been carried out.

Two teams from St. Louis, MO, each made up of a geneticist and a certified genetic counselor, visit the area once a month and see patients. With an average of seven patients seen every month, JCHD has been offering this service for close to 18 years.

Certified Genetic Counselor (CGC) Kathy Morris, MSSW, is a regular at JCHD. Also an assistant professor of pediatrics at St. Louis University, Morris visits along with a geneticist once a month to counsel patients.

A grant provided by the State of Illinois allows her and a geneticist to provide the outreach services in the Southern Illinois towns of Murphysboro, Mt. Vernon, Vandalia and Wood River. Another grant helps her provide similar services in Southeast Missouri.

Affiliated with SSM St. Mary's Health Center and SSM Cardinal Glennon Children's Medical Center, Morris says outreach clinics help her serve a rural population with limited or no access to genetic services.

Dr. Pradeep Reddy, pediatrician at Heartland Regional Memorial Hospital, Marion, IL says he refers an average of one to two patients every month to JCHD for genetic counseling services. "However since they don't have the full complement of services at this time, I refer some patients who need all the services to St Louis."

There is no fee for the history, physical and genetic counseling services at JCHD. However patients are expected to pay for any blood work, skin biopsies, X-rays, and lab tests they are prescribed as part of genetic testing. Nevertheless Twitty notes that insurance and Medicaid cover most of these costs.

Who needs to see a genetic counselor?

Though Dr. Dean G. Huffman, perinatologist with Cape Perinatology Services at St Francis Medical Center in Cape Girardeau, MO, admits that he most commonly sees the patient after she is pregnant in his maternal-fetal medicine practice, sometimes it's preferable to see a patient prior to the pregnancy.

"For example, if the mother is 35 years of age, the risk of having a baby with Down syndrome is roughly one in three hundred," says Huffman. "The higher the maternal age, the greater the risk. If the mother is 45 and pregnant, her risk of having a baby with Down syndrome is down to roughly one in ten."

Red flags that indicate a person needs to see a genetic counselor include:

* Advanced Maternal Age - If the mother is 35 or older (The odds of having a child with a chromosomal abnormality such as Down syndrome increase with age)

* If the patient, her children or other family members have a genetic disorder, birth defect or developmental delay

* If the mother has had three or more miscarriages or a stillborn baby or a baby that died in infancy

* If the patient is from a particular ethnic background (Example: Jews of Eastern-European Ashkenazi background are susceptible to Tay-Sachs disease, Africans from certain countries are prone to sickle-cell disease, people of Mediterranean origin have increased risk of Thalessemia)

* Exposure to infections like chicken pox

* Exposure to radiation, chemotherapy and toxic chemicals

* The mother has used alcohol and drugs through her pregnancy

* If the baby's father is a first cousin or close blood relative

* When prenatal genetic testing confirms the baby has a genetic disorder

* Abnormal results from a blood test, ultrasound, or other screening

If you are on the lookout for a certified genetic counselor near your location:

* Visit the National Society of Genetic Counselors webpage [www.nsgc.org] and type in your zip code.

* Visit Gene Tests [www.genetests.org], a publicly funded medical genetics information resource and click on the Clinic Directory link. They also have an international clinic directory if you or a loved one needs the service in another country.

Recent developments in genetic testing

There are new treatments available for illnesses that were unidentifiable even a few years ago. Experts state that current research could revolutionalize treatments for genetic diseases within the lifetimes of today's newborns.

One of the more recent developments in genetic testing is the validation of the first trimester combined screening at 11 weeks of gestation, as a powerful tool for detecting the presence of fetal Down syndrome in pregnant women.

In the recent past, experts were uncertain about how best to screen pregnant women for the presence of fetal Down syndrome. Should they perform a first-trimester screening? Should they perform a second-trimester screening? Or should they use a technique that incorporated measurements in both trimesters?

A definitive study published in the New England Journal of Medicine in November 2005 put to rest all these doubts. It concluded that first-trimester combined screening at 11 weeks of gestation is far superior to second trimester quadruple screening, but at 13 weeks has results similar to second-trimester quadruple screening.

This development led to pregnant women everywhere expecting the option of first-trimester screening and seeking it out in specialized clinics if unavailable in their immediate neighborhood.

Future predictions for prenatal genetic screening include replacement of the plethora of noninvasive options available today with a simple, definitive, technically advanced, non-invasive test that gives you immediate answers.

With more doctors, nurses and regular people from every walk of life recognizing the need to improve their understanding of genetic health management, the field is expanding at an exponential pace, outdating textbooks as quickly as they are printed.