Genetic Information (HIPAA)

• The science of human genetics is concerned with deciphering and understanding information contained within an individual’s DNA.

• Information carried within the DNA is of a highly sensitive, personal and intimate nature, and therefore protecting that information is of concern to individuals, families and groups.

• Mapping and sequencing human DNA is now possible as a result of the multi-billion dollar Human Genome Project, formally completed on April 14, 2003 (coincidently the same day HIPAA’s privacy standards took effect!).

• A more thorough understanding of human genes offers great promise for predicting health risks and promoting the development or effective treatments.

Other than in the context of law enforcement identification and location efforts, the HIPAA Privacy Rule does not discuss or provide special privacy protections for genetic information. (By contrast, psychotherapy notes do receive "extra" limits on use and disclosure.)

HIPAA’s drafters opted not to create a “special” standard for genetic information, though some genetic information will be protected by the privacy regulation if it meets the definition of protected health information (PHI).

According to the U.S. Department of Health and Human Services (HHS), PHI includes genetic information that otherwise meets the statutory definition (see 65 Fed. Reg. 86261). Therefore, under HIPAA, genetic information will be protected to the same extent as other health information.

Although not specifically stated in the regulations, information about genetic tests, services or counseling, and family history will be protected. HHS has made clear that medical information about a family member contained within an individual’s medical record is information about the individual and therefore may not be disclosed without meeting the requirements of the Rule (see 65 Fed. Reg. 82492).

It is important to note however, that HIPAA will not protect the actual tissue or blood sample itself -- protection is only afforded to the information that it contains or generates. Anonymized biological material is not considered PHI; this is likely to have implications for banked tissue and other forms of genetic research.

Protection of genetic information in the research setting will depend upon whether a researcher or institution is functioning as a provider (a type of covered entitiy) and whether the provider conducts insurance-related transactions. For researcher who are not providers, use and disclosure of genetic information will be affected by HIPAA where the PHI was obtained from a provider who (or an entity which) must comply with the regulation (i.e., is a covered entity or in a business associate relationship with one).

The HIPAA statute includes the first federal protection against genetic discrimination in health insurance. It prohibits commercial health insurers from excluding an individual from group coverage because of past or present medical conditions, including predisposition to certain diseases. It specifically states that genetic information in the absence of a current diagnosis is not a pre-existing condition.

Notwithstanding those protections, HIPAA does not prevent covered health plans from requesting genetic information from plan members or from prospective members as a part of the insurance underwriting process. In addition, HIPAA does not prohibit health insurers from charging higher premiums based on genetic makeup; neither does it specifically limit the disclosure of genetic information about individuals to insurers. However, the Rule’s minimum necessary standard should serve to prevent an insurer from insisting that a provider disclose genetic test results of a member when the results are not necessary for the health plan to reimburse the cost of the test.

Genetic Code

Genes generally express their functional effect through the production of proteins, which are complex molecules responsible for most functions in the cell. Proteins are chains of amino acids, and the DNA sequence of a gene (through RNA intermediate) is used to produce a specific protein sequence. This process begins with the production of an RNA molecule with a sequence matching the gene's DNA sequence, a process called transcription.

This messenger RNA molecule is then used to produce a corresponding amino acid sequence through a process called translation. Each group of three nucleotides in the sequence, called a codon, corresponds to one of the twenty possible amino acids in protein - this correspondence is called the genetic code. The flow of information is unidirectional: information is transferred from nucleotide sequences into the amino acid sequence of proteins, but it never transfers from protein back into the sequence of DNA—a phenomenon Francis Crick called the central dogma of molecular biology.

The dynamic structure of hemoglobin is responsible for its ability to transport oxygen within mammalian blood.

The specific sequence of amino acids results in a unique three-dimensional structure for that protein, and the three-dimensional structures of protein are related to their function. Some are simple structural molecules, like the fibers formed by the protein collagen. Proteins can bind to other proteins and simple molecules, sometimes acting as enzymes by facilitating chemical reactions within the bound molecules (without changing the structure of the protein itself). Protein structure is dynamic; the protein hemoglobin bends into slightly different forms as it facilitates the capture, transport, and release of oxygen molecules within mammalian blood.

A single nucleotide difference within DNA can cause a single change in the amino acid sequence of a protein. Because protein structures are the result of their amino acid sequences, some changes can dramatically change the properties of a protein by destabilizing the structure or changing the surface of the protein in a way that changes its interaction with other proteins and molecules. For example, sickle-cell anemia is a human genetic disease that results from a single base difference within the coding region for the β-globin section of hemoglobin, causing a single amino acid change that changes hemoglobin's physical properties. Sickle-cell versions of hemoglobin stick to themselves, stacking to form fibers that distort the shape of red blood cells carrying the protein. These sickle-shaped cells no longer flow smoothly through blood vessels, having a tendency to clog or degrade, causing the medical problems associated with this disease.

Some genes are transcribed into RNA but are not translated into protein products - these are called non-coding RNA molecules. In some cases, these products fold into structures which are involved in critical cell functions (eg. ribosomal RNA and transfer RNA). RNA can also have regulatory effect through hybridization interactions with other RNA molecules (eg. micro RNA).

Source: wikipedia.org

Gene Testing & its Pros & Cons

Gene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including:

• carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
  
  
• preimplantation genetic diagnosis (see the side bar, Screening Embryos for Disease)
  
  
• prenatal diagnostic testing
  
  
• newborn screening
  
  
• presymptomatic testing for predicting adult-onset disorders such as Huntington's disease
  
  
• presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease
  
  
• confirmational diagnosis of a symptomatic individual
  
  
• forensic/identity testing

Screening Embryos for Disease

"Preimplantation genetic diagnosis (PGD) is a test that screens for genetic flaws among embryos used in in vitro fertilization. With PGD, DNA samples from embryos created in-vitro by the combination of a mother's egg and a father's sperm are analyzed for gene abnormalities that can cause disorders. Fertility specialists can use the results of this analysis to select only mutation-free embryos for implantation into the mother's uterus.

Before PGD, couples at higher risks for conceiving a child with a particular disorder would have to initiate the pregnancy and then undergo chorionic villus sampling in the first trimester or amniocentesis in the second trimester to test the fetus for the presence of disease. If the fetus tested positive for the disorder, the couple would be faced with the dilemma of whether or not to terminate the pregnancy. With PGD, couples are much more likely to have healthy babies, Although PGD has been practiced for years, only a few specialized centers worldwide offer this procedure."

Pros & Cons of Gene Testing

Gene testing already has dramatically improved lives. Some tests are used to clarify a diagnosis and direct a physician toward appropriate treatments, while others allow families to avoid having children with devastating diseases or identify people at high risk for conditions that may be preventable. Aggressive monitoring for and removal of colon growths in those inheriting a gene for familial adenomatous polyposis, for example, has saved many lives. On the horizon is a gene test that will provide doctors with a simple diagnostic test for a common iron-storage disease, transforming it from a usually fatal condition to a treatable one.

Commercialized gene tests for adult-onset disorders such as Alzheimer's disease and some cancers are the subject of most of the debate over gene testing. These tests are targeted to healthy (presymptomatic) people who are identified as being at high risk because of a strong family medical history for the disorder. The tests give only a probability for developing the disorder. One of the most serious limitations of these susceptibility tests is the difficulty in interpreting a positive result because some people who carry a disease-associated mutation never develop the disease. Scientists believe that these mutations may work together with other, unknown mutations or with environmental factors to cause disease.

A limitation of all medical testing is the possibility for laboratory errors. These might be due to sample misidentification, contamination of the chemicals used for testing, or other factors.

Many in the medical establishment feel that uncertainties surrounding test interpretation, the current lack of available medical options for these diseases, the tests' potential for provoking anxiety, and risks for discrimination and social stigmatization could outweigh the benefits of testing.