On Target: Disability and Health in New York State, Volume 5

Extensive Genetic Services Available in New York State

Each year, approximately 35,000 patients use services provided by the 49 genetic programs in New York State, according to the state Genetic Services Program.

The most frequently used genetic services are prenatal testing and counseling. In 1993, 23,948 patients made 26,538 prenatal visits to genetic service centers, while another 10,472 patients made 16,837 visits for clinical services, such as counseling, diagnostic testing and management of genetic conditions.

Genetic service programs offer patients the opportunity to:

  • work with genetic counselors and clinical geneticists in pinpointing the origin of an inherited health problem or disease;
  • understand the natural history and most appropriate management of the genetic disease or birth defect;
  • attend a support group for a genetic health problem or disease and learn how people in similar situations manage;
  • have their newborns tested for rare and serious diseases;
  • benefit from referrals, such as to specialty clinics and counseling.

Most commonly, a genetic counselor reviews an individual's personal and family history of disease to construct a family health pedigree or health tree. Other data that genetic counselors may gather for the pedigree are: ethnic identity; how closely related by blood the patient is to a relative (parent, sibling, aunt, uncle, etc.) who has (had) the same health problem or disease; age when complaint/health problem arose; specific manifestations of disease; and age at death.

Genetic services programs also provide genetic counseling regarding a patient's risk for inheritable conditions, available treatments and expected outcomes. Many have extensive referral networks to specialty medical services (i.e., oncology, craniofacial, neurology, dermatology, surgery). Others offer special expertise directly, such as breast cancer screening (including risk assessment, counseling, diagnosis, and referral).

Genetic services are available to everyone. For more information on the location of the genetic services program nearest you, contact GENES (Genetics Network of New York, Puerto Rico and Virgin Islands) at (518)474-1222.

What is Genetic Counseling?

Genetic counseling ... deals with the human problems (personal and family impact) associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. The process of genetic counseling involves an attempt by one or more appropriately trained individuals to help the affected individual or family to:

  • comprehend the medical facts, including the diagnosis, probable cause of the disorder, and the available management;
  • appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives;
  • understand the alternatives for dealing with risk of recurrence;
  • choose the course of action which seems to be appropriate in view of their risk, their family goals, and their ethical and religious standards, and to act in accordance with that decision;
  • make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.

(From the Ad Hoc Committee on Genetic Counseling of the American Society of Human Genetics, Am. J. Human Genetics 27: 240-242, 1975.)

What is "GENES"?

The GENES (Genetics Network of New York, Puerto Rico and the Virgin Islands) network is comprised of genetic service centers; support groups; specialty clinics (i.e., sickle cell, hemophilia, muscular dystrophy, cystic fibrosis); cytogenetics (study of chromosomes) services; genetic testing laboratories (i.e., alpha fetoprotein for prenatal testing, DNA-based testing, and biochemical genetic testing); counseling services, including teratogen (agents or drugs causing developmental malformations) counseling; genetic disease registries; and regulatory, state and federal offices.

Genetic services programs, professional genetic services providers and other health professionals, parents and other individuals with an interest in genetics are welcome to join GENES. GENES is one of 10 regional networks established and funded by the federal government.

GENES is part of CORN (Council of Regional Networks for Genetic Services), which enables New York State genetic providers to refer families to genetic services throughout the nation.

Membership is free. Call GENES at (518) 474-1222.

GENES Genetics Services Directory Available

Free copies of the GENES (Genetics Network of New York, Puerto Rico and the Virgin Islands) Genetic Services Directory are available to health care providers and patients.

The directory contains information about the 49 genetic services programs and affiliated speciality clinics (i.e., Down Syndrome and other chromosomal anomalies, spina bifida, Huntington's Disease) around the state; laboratories; treatment centers for Cooley's anemia, cystic fibrosis, Gaucher's disease, hypothyroidism, inherited metabolic disease, muscular dystrophy, and sickle cell anemia; GENES and its committees; NYS Genetics Task Force; genetic disease registries; and patient support groups.

To order a copy, call GENES at (518) 474-1222.

TIS Provides Information on Birth Defects

Can drinking beer or smoking cigarettes during pregnancy harm a fetus?

Is it safe to use insecticides in the house or garden during pregnancy?

Can prescription medications taken during pregnancy harm the fetus' normal development?

These are common questions answered by the Teratology Information Service (TIS), a Buffalo-based telephone service that provides information about the effects that drugs, medications and chemicals may have on a developing fetus. It is funded by the New York State Office of Mental Retardation and Developmental Disabilities. A woman (or her health caregiver) calling TIS will be asked the exact name of the drug, medication or agent to which she was exposed, the date and frequency of her exposure, and the first day of her last menstrual period. Depending on the type of question and amount of research required, trained TIS counselors will return the call with the appropriate answers within 24 hours.

The TIS is available throughout Western New York (Allegany, Cattauragus, Chautauqua, Erie, Genesee, Niagara, Orleans and Wyoming counties) to couples planning pregnancy, pregnant women, their healthcare providers, and couples with questions regarding exposures and breastfeeding. Inquiries from professionals outside Western New York are handled on an as-available basis. The service handles approximately 600 calls annually. TIS staff are pursuing additional funding to expand the service beyond the Western New York region. To access, call (716) 874-7328 or (800) 724-2454, extension 137 (for both phone numbers), Monday through Friday, 8:30 to 4 p.m.1 month (8.3%)

NYS Newborn Screening Program Tests for 7 Disorders

Babies born in New York State are tested for seven rare and serious disorders through the NYS Newborn Screening Program. Each of the disorders can affect a baby within days or weeks after birth. For this reason, prompt testing, diagnosis and treatment are important. Early treatment can prevent many of the symptoms of the disorders.

Newborns who are identified as having one of the seven conditions may show no obvious signs of disease. In each of these inherited metabolic disorders, there is an invisible problem in one of the many chemicals produced naturally by the baby's body.

All the tests are performed using one tiny blood sample obtained by pricking the baby's heel. The sample is usually taken the day of the newborn's discharge from the hospital, and is sent to the state Health Department's Wadsworth Center for Laboratories and Research, in Albany, for testing.

All states have newborn screening programs; New York's was established in 1965. Of the 278,006 newborns tested last year in the state, 573 babies were diagnosed with one of the following seven disorders:

  • Phenylketonuria -- Also called PKU. The body lacks a certain enzyme and cannot break down an amino acid called phenylalanine. A special diet low in phenylalanine prevents brain damage which would normally result if the baby is untreated. Occurs in about 1 in 18,000 newborns.
  • Branched-chain ketonuria -- Also called maple syrup urine disease (MSUD) because of the urine's odor. The body lacks a certain enzyme and cannot break down some components of food protein. Treatment with a special diet can prevent life-threatening complications. Occurs in about 1 in 57,000 newborns.
  • Galactosemia -- A milk sugar (galactose) cannot be broken down because the body lacks an enzyme. A diet low in galactose can prevent life-threatening complications. Occurs in about 1 in 268,000 newborns.
  • Homocystinuria -- Lack of an enzyme in the liver can produce mental retardation and body changes, such as bone and eye abnormalities. Treatable with a special diet. Occurs in about 1 in 225,000 newborns.
  • Hypothyroidism -- Inadequate production of a hormone (thyroxine) can lead to mental and growth retardation. Treatable with medication. Occurs in about 1 in 4,000 newborns.
  • Sickle cell disease -- Also called sickle cell anemia or homozygous disease. A disorder of the hemoglobin (oxygen-carrying part) of red blood cells. Because of the high risk of developing infections or anemia, comprehensive care by an experienced physician is necessary. Occurs in about 1 in 500 black newborns; less frequently in Hispanic or Mediterranean infants.
    • This screening also detects hemoglobin SC disease, and sickle cell trait. Medical intervention is necessary for hemoglobin SC disease.
    • With sickle cell trait, a child does not have the problems of sickle cell disease, although his or her parents could be at-risk for having another child with sickle cell disease. Eight percent of black newborns and three percent of Hispanic newborns have the sickle cell trait.
  • Biotinidase deficiency -- Lack of an enzyme (biotinidase) prevents the body from properly absorbing or recycling the vitamin biotin. Severe skin rashes, vision and hearing impairment, and brain damage can be prevented by daily biotin supplements. Occurs in about 1 in 80,000 newborns.

After blood samples are taken, the results are sent within 10 to 12 days to the child's doctor or clinic. Parents may contact their healthcare provider for tests results. The great majority of tests reveal no problems. If there are serious problems, the parents will be notified within a week by the child's doctor.

Clinicians work closely with the family concerning treatment. Because most of these disorders are inherited chemical problems, they cannot be cured. However, the serious effects of the diseases can be lessened - and often prevented - if a special diet or medical treatment is started early.

Health care professionals seeking more information about the Newborn Screening Program may call (518) 473-7552.

NYS Plans Folic Acid Campaign

Folic acid is a B vitamin that can reduce birth defects of the brain and spine by at least 50 percent. The catch is that folic acid is only effective in preventing birth defects BEFORE conception and in the very early weeks of pregnancy, a time when most women don't know that they are pregnant

To promote the benefits of folic acid, the state Health Department's Disability Prevention Program will launch a folic acid educational campaign, targeting women and their physicians and other health care professionals. Brochures and other written materials will be available. For further information, contact Frances Stevens, NYSDOH Disability Prevention Program, at (518) 474-2018.

Cornell Genetic Program Offers Community Education

The Cornell University Medical College Program in Regional Genetics and Sickle Cell offers community-based education, as well as a full range of genetic diagnostic, counseling and educational services to residents of Nassau and Suffolk counties. It is among the most active community-based educational programs in the state.

The program cooperates with Long Island high schools, children's service organizations, churches, etc., to provide educational presentations on such topics as birth defects, specific genetic diseases, current practices in genetic counseling, the Human Genome Project, and genetic testing and screening.

Since September 1992, the program has reached almost 10,000 Long Island high school students in 50 school districts, as well as healthcare providers, college students, teacher groups and health fair attendees. In addition, a recent, one-day teaching workshop on genetics was held for about 130 biology and health teachers representing 10 regional high schools. Presentations covered clinical genetics, molecular genetics, the Human Genome Project, gene therapy, and social implications of teaching genetics.

For additional information on the regional genetics educational program, call Barbara Hull, Cornell University Medical College Program in Regional Genetics and Sickle Cell, at (516) 548-6866, or write Central Suffolk Hospital, 1300 Roanoke Ave., Riverhead, N.Y. 11901.

Human Genome Project Wants To Decipher Genetic Secrets

Imagine a world free of the nearly 4,000 known genetic diseases. Further envision that scientists have unlocked the secrets of the complete set of genes, known as the human genome, and now can prevent and treat all diseases.

Researchers are on that path. The Human Genome Project is an ambitious project designed to locate the approximately 100,000 genes and to decode the exact sequence of all 3 billion bits of information that make up the human genome.They hope to complete this daunting task by 2005.

The Human Genome Project is designing decoding tools, such as a genetic map, that will help scientists find genes quickly and efficiently. These new tools are likely to help improve the early detection and treatment of disease and create new approaches to prevention.

Once the molecular base of a disease is revealed, scientists have a better chance of treating it. One approach is to design highly targeted drugs that act on the cause, not merely the symptoms of a disease. Another way is to correct or replace the altered gene through gene therapy.

Because of the profound ethical, legal and social implications of the scientific and medical breakthroughs expected from the Human Genome Project, the National Center for Human Genome Research supports researchers, clinicians and ethicists who must address the issues before widespread population-based screening begins. Among concerns are the problems that will arise when a genetic disease can be identified, but not prevented or cured. Will an at-risk patient in this situation be viewed as a liability by future employers and health insurance companies, and be denied health insurance or a job? The dilemma of knowing/ not knowing one's genetic fate can be a double-edged sword.

For further information about the Human Genome Project, write the Office of Communications, National Center for Human Genome Research, National Institutes of Health, Building 31, Room 4B09, 900 Rockville Pike, Bethesda, M.D. 20892, or call (301) 402-0911.

Projects Target Specific Ethno-Cultural Groups

A variety of genetic services centers target specific ethno-cultural groups in New York State, including Southeast Asians, Hispanics, Hasidic and Russian Jews, Chinese, Italians, Greeks, and African-Americans. Some of these centers specialize in a particular genetic disorder found in high frequency in one or more ethnic groups, such as Tay-Sachs disease among those of Ashkenazi Jewish descent and thalassemia among those of Mediterranean and Asian descent. Other centers have developed special interest and expertise in one culture, and include community members on their staffs.

Dor Yeshorim -- Committee for Prevention of Jewish Genetic Diseases

This nationwide program, based in Brooklyn, provides premarital screening for Tay-Sachs disease, a lethal neuro-degenerative disorder. (If two people "carry" or have the gene for Tay-Sachs, each child has a 25 percent probability of being born with the disease.) Approximately 1 in 25 individuals of Eastern European Jewish descent carry a gene for this disease. The program also screens for cystic fibrosis, Fanconi anemia and Canavan disease.

Taking into account the traditional Jewish community's beliefs concerning the sacredness of marriage, pregnancy and family, this program offers screenings to religious high school seniors prior to considering marriage. (Premarital screenings are available for older couples marrying for the first time, but teen-agers are targeted.) When a marriagepartner is being considered, the couple contacts the program's office for their carrier status by presenting their coded identification numbers that they received when they were screened. The couple will be informed of their status ONLY if they are BOTH carriers. Otherwise, even if one is a carrier, they will only be told that they are genetically compatible. Couples who are carriers will be referred for counseling to consider their options; many choose not to marry.

Currently, over 55,000 traditional Jews (religious, such as Orthodox, Hasidim) have been screened for Tay-Sachs and other diseases, with their blood sample results stored in the program's computer banks. As a result of the program, new incidences of Tays-Sachs have been nearly eliminated in the traditional Jewish community. For more information, call (718) 384-6060.

Cooley's Anemia Program in 3 Cities

Four federally funded Cooley's Anemia Programs are providing medical management, including transfusion and chelation (iron removal treatment) to approximately 150 patients who have the blood disorder, Cooley's anemia. The programs are located at Columbia-Presbyterian Hospital and Cornell University Medical College/New York Hospital, both in New York City; The Children's Hospital of Buffalo; and Strong Memorial Hospital/University of Rochester.

Children with Cooley's anemia are well at birth, but usually become ill before they are 18 months old. In healthy bodies, adult hemoglobin begins to replace the baby's special hemoglobin, called fetal hemoglobin, by the time she or he is six months old. Without enough adult hemogoblin, severe anemia, when the blood doesn't have enough red blood cells, develops. This condition leads to abnormal body development and boneshape. The spleen, whose job it is to destroy old red blood cells, later begins to destroy young red blood cells, white blood cells and platelets, making the child very sick. Without medical intervention, the child will die.

In recent years, the profile of Cooley's anemia patients has been changing as a result of many factors:

  • Screening programs and community educational programs are helping identify additional at-risk patients.
  • Patients are living longer, into adulthood, thanks to advances in treatment and research.
  • Many patients have contracted HIV, the virus that causes AIDS, or hepatitis through blood transfusions. (Many of these patients, however, contracted the HIV virus through blood transfusions performed years ago, before current blood bank testing standards were available.)
  • Immigration patterns have changed the pool of affected ethnic backgrounds. Initially, most patients in New York were of Italian or Greek background. Now, as a result of changing immigration patterns, many patients are from India, Pakistan, Thailand and Vietnam.

In response to these changes, the programs have changed as well:

  • Adult medicine specialists have become increasingly involved in treating older patients.
  • Evening treatment clinics have been initiated to meet the needs of the increasing number of adolescents and young adults who are in school or working during the day.
  • Sessions on career training, marriage and family planning, HIV/AIDS and hepatitis are ongoing at clinics.
  • More language interpreters with special training in genetics have been hired, and community leaders from high-risk ethnic groups are becoming involved in outreach.

And, there have been advances in treatments:

  • The effectiveness of oral chelators, a relatively new drug treatment strategy, is being investigated. Chelators are drugs that bind themselves to the excess iron in the patient's body, and remove it through the urine.
  • Bone marrow treatment of selected patients, as well as psychological support services, and preconception and prenatal carrier screening and prenatal diagnosis have been expanded. Additionally, research is continuing into the cardiac, endocrine and hepatic manifestations of this blood disorder.

Sickle Cell Services Program

Some programs offering comprehensive care for sickle cell disease, or case management, approach, are: Albany Medical Center; University of Rochester; St. Luke's-Roosevelt Hospital Center; Harlem Hospital; Montefiore Medical Center; Kings County Hospital; and Interfaith Hospital in Brooklyn.

In case management, the patient's entire well-being is considered, not just issues directly related to the disease. Case managers make sure that patients and families are educated about the disease; that patients keep medical appointments and follow through on treatment, and that patients receive other necessary health and social services.

Research is an integral part of comprehensive sickle cell services. Recently, adult patients at St. Luke's-Roosevelt Hospital Center were part of a clinical trial of hydroxyurea, a drug used to treat certain forms of leukemia and found to also reduce pain crises in those with sickle cell disease. Hydroxyurea is produced by Bristol-Myers Squibb under the brand name of Hydrea. Although Hydrea is not licensed yet by the FDA, physicians can prescribe Hydrea for adults with sickle cell disease. Used carefully and with frequent monitoring, hydroxyurea for adults appears to be safe and effective, according to a New England Journal of Medicine article. Further research will explore its effects upon children.

For further information on sickle cell treatment centers, call (518)473-8472.

Cancer Genetic Counseling

Several genetics programs specialize in cancer genetic counseling, also called cancer risk estimation and counseling, for those with family histories of cancer. Among programs with cancer genetic counseling are Memorial Sloan-Kettering Cancer Center and Strang Cancer Prevention Center, New York City; and Roswell Park Cancer Institute, Buffalo.

Genetic counselors consider family history, the individual's lifestyle, and exposure to cancer-causing materials in assessing the person's risk for a specific cancer or for cancer that appears to run in families.

They can help devise a monitoring plan to significantly reduce morbidity and mortality, and to allay anxieties and fears.According to the Cancer Risk Counseling Alliance, cancer risk counseling includes:

  • obtaining detailed family, medical and lifestyle histories;
  • documentation of cancer-related diagnoses;
  • a pedigree (family health history tree) and analysis;
  • risk assessment and counseling;
  • discussion of options for early detection and prevention.

The Alliance says that counseling for a cancer risk may be appropriate when:

  • The cancer(s) occurs more frequently among family members than expected by chance alone;
  • The family has a known genetic condition that predisposes them to cancer;
  • The family members are concerned about a cancer risk, whether this risk is real or perceived.

Discussion of risk frequency with a patient includes explaining how carcinogens, or cancer-causing agents, work in the body, inheritance patterns of hereditary cancers, and how one's risk is estimated.On Target is also available on audio cassette. For a copy, contact:

Mary Burt
Bureau of Community Relations
New York State Department of Health
1084 Corning Tower
Albany, New York 12237
(518) 474-5370